ACP1

ACP1 acid phosphatase 1

Annotation transcript: NM_004300.4

217 unique variant annotations were identified in 276 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
2-264948-C-G c.-17C>G - 5-UTRSNV 1/6 - 2
2-264948-C-T c.-17C>T - 5-UTRSNV 1/6 - 2
2-264973-A-C c.9A>C p.E3D Missense 1/6 - 1
2-264973-A-T c.9A>T p.E3D Missense 1/6 - 1
2-264975-A-T c.11A>T p.Q4L Missense 1/6 - 1
2-264980-A-G c.16A>G p.T6A Missense 1/6 - 1
2-264980-A-T c.16A>T p.T6S Missense 1/6 - 1
2-264982-C-A c.18C>A p.T6= Synonymous 1/6 - 2
2-264982-C-CT c.18_19insT p.K7* Nonsense 1/6 - 1
2-264982-C-G c.18C>G p.T6= Synonymous 1/6 - 3
2-264982-C-T c.18C>T p.T6= Synonymous 1/6 - 2
2-264983-A-G c.19A>G p.K7E Missense 1/6 - 1
2-264985-G-A c.21G>A p.K7= Synonymous 1/6 - 3
2-264985-G-C c.21G>C p.K7N Missense 1/6 - 3
2-264985-G-T c.21G>T p.K7N Missense 1/6 - 3
2-264986-T-G c.22T>G p.S8A Missense 1/6 - 1
2-264987-C-A c.23C>A p.S8Y Missense 1/6 - 3
2-264995-TT-CG c.31_32delinsCG p.F11R Missense 1/6 - 5
2-264998-G-A c.34G>A p.V12M Missense 1/6 - 1
2-265001-TG-GC c.37_38delinsGC p.C13A Missense 1/6 - 1
2-265004-C-G c.40C>G p.L14V Missense 1/6 - 2
2-265109-A-G c.43+102A>G - IntronicSNV - 1/5 1
2-265789-TC-T c.43+782del - IntronicDeletion - 1/5 1
2-265970-C-G c.43+963C>G - IntronicSNV - 1/5 2
2-266895-C-T c.43+1888C>T - IntronicSNV - 1/5 1
2-266907-C-G c.43+1900C>G - IntronicSNV - 1/5 1
2-266907-C-T c.43+1900C>T - IntronicSNV - 1/5 1
2-267367-G-T c.43+2360G>T - IntronicSNV - 1/5 1
2-268191-G-T c.43+3184G>T - IntronicSNV - 1/5 2
2-268293-A-G c.43+3286A>G - IntronicSNV - 1/5 1
2-268871-G-A c.44-2995G>A - IntronicSNV - 1/5 1
2-269352-G-A c.44-2514G>A - IntronicSNV - 1/5 5
2-269679-C-T c.44-2187C>T - IntronicSNV - 1/5 1
2-271797-G-A c.44-69G>A - IntronicSNV - 1/5 5
2-271867-T-G c.45T>G p.G15= Synonymous 2/6 - 1
2-271874-TG-GA c.52_53delinsGA p.C18D Missense 2/6 - 1
2-271875-G-T c.53G>T p.C18F Missense 2/6 - 1
2-271876-T-C c.54T>C p.C18= Synonymous 2/6 - 1
2-271876-T-G c.54T>G p.C18W Missense 2/6 - 1
2-271877-C-A c.55C>A p.R19= Synonymous 2/6 - 1
2-271877-CGA-TGG c.55_57delinsTGG p.R19W Missense 2/6 - 1
2-271877-C-T c.55C>T p.R19* Nonsense 2/6 - 1
2-271878-G-A c.56G>A p.R19Q Missense 2/6 - 3
2-271880-TCA-GAC c.58_60delinsGAC p.S20D Missense 2/6 - 1
2-271880-TC-GA c.58_59inv p.S20E Missense 2/6 - 1
2-271880-TC-GG c.58_59delinsGG p.S20G Missense 2/6 - 1
2-271880-T-G c.58T>G p.S20A Missense 2/6 - 1
2-271881-CA-TT c.59_60delinsTT p.S20F Missense 2/6 - 1
2-271881-C-T c.59C>T p.S20L Missense 2/6 - 2
2-271885-C-A c.63C>A p.P21= Synonymous 2/6 - 1
2-271885-C-G c.63C>G p.P21= Synonymous 2/6 - 1
2-271885-C-T c.63C>T p.P21= Synonymous 2/6 - 2
2-271887-T-A c.65T>A p.I22N Missense 2/6 - 1
2-271896-CA-AC c.74_75delinsAC p.A25D Missense 2/6 - 2
2-271905-GG-CT c.83_84delinsCT p.R28T Missense 2/6 - 1
2-271913-G-A c.91G>A p.V31I Missense 2/6 - 1
2-271918-C-A c.96C>A p.T32= Synonymous 2/6 - 1
2-271918-C-G c.96C>G p.T32= Synonymous 2/6 - 1
2-271918-C-T c.96C>T p.T32= Synonymous 2/6 - 3
2-271919-G-A c.97G>A p.D33N Missense 2/6 - 3
2-271923-A-G c.101A>G p.Q34R Missense 2/6 - 1
2-271928-A-G c.106A>G p.I36V Missense 2/6 - 2
2-271932-C-T c.110C>T p.S37L Missense 2/6 - 1
2-271934-G-C c.112G>C p.E38Q Missense 2/6 - 1
2-271936-G-A c.114G>A p.E38= Synonymous 2/6 - 1
2-271936-G-C c.114G>C p.E38D Missense 2/6 - 1
2-271940-G-A c.117+1G>A - IntronicSNV - 2/5 1
2-272047-A-G c.128A>G p.D43G Missense 3/6 - 3
2-272048-C-T c.129C>T p.D43= Synonymous 3/6 - 5
2-272049-A-C c.130A>C p.S44R Missense 3/6 - 1
2-272051-C-A c.132C>A p.S44R Missense 3/6 - 1
2-272051-C-G c.132C>G p.S44R Missense 3/6 - 1
2-272051-C-T c.132C>T p.S44= Synonymous 3/6 - 11
2-272052-G-A c.133G>A p.A45T Missense 3/6 - 4
2-272053-C-T c.134C>T p.A45V Missense 3/6 - 4
2-272055-G-A c.136G>A p.A46T Missense 3/6 - 1
2-272055-G-T c.136G>T p.A46S Missense 3/6 - 1
2-272058-AC-GA c.139_140delinsGA p.T47D Missense 3/6 - 6
2-272060-T-G c.141T>G p.T47= Synonymous 3/6 - 1
2-272061-T-A c.142T>A p.S48T Missense 3/6 - 1
2-272061-TC-CG c.142_143delinsCG p.S48R Missense 3/6 - 1
2-272067-T-G c.148T>G p.Y50D Missense 3/6 - 1
2-272070-GAG-TTT c.151_153delinsTTT p.E51F Missense 3/6 - 1
2-272070-G-C c.151G>C p.E51Q Missense 3/6 - 1
2-272070-G-T c.151G>T p.E51* Nonsense 3/6 - 1
2-272073-AT-TA c.154_155delinsTA p.I52* Nonsense 3/6 - 1
2-272077-G-T c.158G>T p.G53V Missense 3/6 - 1
2-272083-C-G c.164C>G p.P55R Missense 3/6 - 2
2-272085-C-G c.166C>G p.P56A Missense 3/6 - 2
2-272085-C-T c.166C>T p.P56S Missense 3/6 - 1
2-272080-A-AC c.167dup p.D57* Nonsense 3/6 - 1
2-272080-AC-A c.167del p.P56Lfs*9 Frameshift 3/6 - 3
2-272086-C-T c.167C>T p.P56L Missense 3/6 - 1
2-272088-GAC-TAA c.169_171delinsTAA p.D57* Nonsense 3/6 - 2
2-272088-G-T c.169G>T p.D57Y Missense 3/6 - 1
2-272094-C-G c.175C>G p.R59G Missense 3/6 - 1
2-272114-G-A c.195G>A p.K65= Synonymous 3/6 - 1
2-272115-AG-CA c.196_197delinsCA p.R66Q Missense 3/6 - 1
2-272115-A-T c.196A>T p.R66W Missense 3/6 - 1
2-272118-C-A c.199C>A p.H67N Missense 3/6 - 1
2-272118-C-G c.199C>G p.H67D Missense 3/6 - 1
2-272118-C-T c.199C>T p.H67Y Missense 3/6 - 2
2-272120-C-T c.201C>T p.H67= Synonymous 3/6 - 1
2-272121-G-A c.202G>A p.G68S Missense 3/6 - 1
2-272122-G-A c.203G>A p.G68D Missense 3/6 - 2
2-272127-C-T c.208C>T p.P70S Missense 3/6 - 2
2-272128-C-T c.209C>T p.P70L Missense 3/6 - 1
2-272130-A-G c.211A>G p.M71V Missense 3/6 - 1
2-272139-GTT-ATG c.220_222delinsATG p.V74M Missense 3/6 - 1
2-272145-C-T c.226C>T p.R76W Missense 3/6 - 2
2-272146-G-A c.227G>A p.R76Q Missense 3/6 - 1
2-272154-C-T c.231+4C>T - IntronicSNV - 3/5 1
2-272203-C-T c.231+53C>T - IntronicSNV - 3/5 32
2-272227-C-T c.231+77C>T - IntronicSNV - 3/5 1
2-272232-G-A c.231+82G>A - IntronicSNV - 3/5 1
2-272273-C-G c.231+123C>G - IntronicSNV - 3/5 1
2-272273-C-T c.231+123C>T - IntronicSNV - 3/5 1
2-272301-G-C c.231+151G>C - IntronicSNV - 3/5 1
2-272840-G-A c.231+690G>A - IntronicSNV - 3/5 4
2-272903-A-C c.231+753A>C - IntronicSNV - 3/5 1
2-272915-A-G c.231+765A>G - IntronicSNV - 3/5 1
2-272926-A-G c.231+776A>G - IntronicSNV - 3/5 6
2-273017-GAA-G c.231+870_231+871del - IntronicDeletion - 3/5 1
2-273058-A-C c.231+908A>C - IntronicSNV - 3/5 1
2-273070-A-G c.231+920A>G - IntronicSNV - 3/5 9
2-273621-C-G c.231+1471C>G - IntronicSNV - 3/5 3
2-274341-G-A c.232-799G>A - IntronicSNV - 3/5 1
2-274672-C-G c.232-468C>G - IntronicSNV - 3/5 1
2-275144-CC-TG c.236_237delinsTG p.T79M Missense 4/6 - 1
2-275144-C-T c.236C>T p.T79I Missense 4/6 - 1
2-275150-A-T c.242A>T p.E81V Missense 4/6 - 1
2-275152-G-A c.244G>A p.D82N Missense 4/6 - 1
2-275152-G-T c.244G>T p.D82Y Missense 4/6 - 1
2-275155-T-C c.247T>C p.F83L Missense 4/6 - 1
2-275157-T-A c.249T>A p.F83L Missense 4/6 - 1
2-275157-T-G c.249T>G p.F83L Missense 4/6 - 1
2-275160-C-A c.252C>A p.A84= Synonymous 4/6 - 1
2-275160-C-G c.252C>G p.A84= Synonymous 4/6 - 1
2-275160-C-T c.252C>T p.A84= Synonymous 4/6 - 2
2-275167-G-T c.259G>T p.D87Y Missense 4/6 - 1
2-275176-C-T c.268C>T p.L90= Synonymous 4/6 - 2
2-275178-A-C c.270A>C p.L90= Synonymous 4/6 - 1
2-275178-A-G c.270A>G p.L90= Synonymous 4/6 - 1
2-275178-A-T c.270A>T p.L90= Synonymous 4/6 - 1
2-275179-T-C c.271T>C p.C91R Missense 4/6 - 3
2-275181-T-C c.273T>C p.C91= Synonymous 4/6 - 1
2-275188-G-A c.280G>A p.E94K Missense 4/6 - 1
2-275191-A-G c.283A>G p.S95G Missense 4/6 - 1
2-275588-A-G c.293+387A>G - IntronicSNV - 4/5 1
2-276346-T-C c.294-634T>C - IntronicSNV - 4/5 2
2-276908-C-A c.294-72C>A - IntronicSNV - 4/5 4
2-276908-C-G c.294-72C>G - IntronicSNV - 4/5 4
2-276942-A-G c.294-38A>G - IntronicSNV - 4/5 6
2-276987-A-T c.301A>T p.N101Y Missense 5/6 - 1
2-276988-A-G c.302A>G p.N101S Missense 5/6 - 1
2-276991-G-A c.305G>A p.R102K Missense 5/6 - 1
2-276999-A-G c.313A>G p.N105D Missense 5/6 - 1
2-277000-A-G c.314A>G p.N105S Missense 5/6 - 1
2-277002-C-G c.316C>G p.Q106E Missense 5/6 - 1
2-277002-C-T c.316C>T p.Q106* Nonsense 5/6 - 1
2-277003-A-G c.317A>G p.Q106R Missense 5/6 - 29
2-277013-C-A c.327C>A p.T109= Synonymous 5/6 - 1
2-277013-C-G c.327C>G p.T109= Synonymous 5/6 - 1
2-277013-C-T c.327C>T p.T109= Synonymous 5/6 - 3
2-277017-A-C c.331A>C p.K111Q Missense 5/6 - 1
2-277020-G-C c.334G>C p.A112P Missense 5/6 - 3
2-277031-A-G c.345A>G p.E115= Synonymous 5/6 - 1
2-277034-A-G c.348A>G p.L116= Synonymous 5/6 - 1
2-277042-G-A c.356G>A p.S119N Missense 5/6 - 2
2-277047-G-C c.361G>C p.D121H Missense 5/6 - 1
2-277048-A-T c.362A>T p.D121V Missense 5/6 - 1
2-277049-T-A c.363T>A p.D121E Missense 5/6 - 1
2-277049-T-C c.363T>C p.D121= Synonymous 5/6 - 1
2-277049-T-G c.363T>G p.D121E Missense 5/6 - 1
2-277050-C-G c.364C>G p.P122A Missense 5/6 - 1
2-277050-C-T c.364C>T p.P122S Missense 5/6 - 2
2-277052-A-C c.366A>C p.P122= Synonymous 5/6 - 1
2-277052-A-G c.366A>G p.P122= Synonymous 5/6 - 1
2-277052-A-T c.366A>T p.P122= Synonymous 5/6 - 1
2-277055-A-G c.369A>G p.Q123= Synonymous 5/6 - 1
2-277053-CA-C c.372del p.K124Nfs*61 Frameshift 5/6 - 1
2-277062-C-T c.376C>T p.L126F Missense 5/6 - 1
2-277063-T-C c.377T>C p.L126P Missense 5/6 - 1
2-277062-CTTA-C c.382_384del p.I128del InFrameDeletion 5/6 - 1
2-277071-G-C c.385G>C p.E129Q Missense 5/6 - 2
2-277076-T-A c.390T>A p.D130E Missense 5/6 - 1
2-277076-T-G c.390T>G p.D130E Missense 5/6 - 1
2-277077-C-A c.391C>A p.P131T Missense 5/6 - 2
2-277079-C-A c.393C>A p.P131= Synonymous 5/6 - 3
2-277082-T-A c.396T>A p.Y132* Nonsense 5/6 - 1
2-277082-T-G c.396T>G p.Y132* Nonsense 5/6 - 1
2-277085-T-A c.399T>A p.Y133* Nonsense 5/6 - 1
2-277085-T-G c.399T>G p.Y133* Nonsense 5/6 - 1
2-277229-G-A c.402G>A p.G134= Synonymous 6/6 - 1
2-277229-G-T c.402G>T p.G134= Synonymous 6/6 - 1
2-277233-G-T c.406G>T p.D136Y Missense 6/6 - 1
2-277235-C-T c.408C>T p.D136= Synonymous 6/6 - 1
2-277237-C-T c.410C>T p.S137F Missense 6/6 - 1
2-277239-G-T c.412G>T p.D138Y Missense 6/6 - 1
2-277245-G-C c.418G>C p.E140Q Missense 6/6 - 1
2-277249-C-T c.422C>T p.T141M Missense 6/6 - 1
2-277250-G-A c.423G>A p.T141= Synonymous 6/6 - 1
2-277250-G-C c.423G>C p.T141= Synonymous 6/6 - 1
2-277250-G-T c.423G>T p.T141= Synonymous 6/6 - 2
2-277264-G-T c.437G>T p.C146F Missense 6/6 - 2
2-277266-G-A c.439G>A p.V147I Missense 6/6 - 1
2-277269-AG-GC c.442_443delinsGC p.R148A Missense 6/6 - 1
2-277270-G-T c.443G>T p.R148M Missense 6/6 - 1
2-277274-C-A c.447C>A p.C149* Nonsense 6/6 - 3
2-277277-C-T c.450C>T p.C150= Synonymous 6/6 - 1
2-277290-G-T c.463G>T p.E155* Nonsense 6/6 - 1
2-277292-G-A c.465G>A p.E155= Synonymous 6/6 - 3
2-277297-C-A c.470C>A p.A157D Missense 6/6 - 1
2-277297-C-T c.470C>T p.A157V Missense 6/6 - 1
2-277951-C-A c.*647C>A - 3-UTRSNV 6/6 - 1
2-277951-C-T c.*647C>T - 3-UTRSNV 6/6 - 1
2-277995-A-G c.*691A>G - 3-UTRSNV 6/6 - 4