TAGLN transgelin

Canonical transcript: NM_001001522

34 unique variant annotations were identified in 46 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
11-117070857-G-A c.-13+312G>A - intron_variant - 1/4 2
11-117070857-G-T c.-13+312G>T - intron_variant - 1/4 2
11-117071449-C-T c.-13+904C>T - intron_variant - 1/4 1
11-117072074-C-T c.-13+1529C>T - intron_variant - 1/4 1
11-117072525-C-T c.-12-1193C>T - IntronicSNV - 1/4 1
11-117073533-C-G c.-197C>G - IntronicSNV 1/5 - 4
11-117073533-C-T c.-197C>T - IntronicSNV 1/5 - 4
11-117073760-AG-GC c.31_32delinsGC p.Ser11Ala Missense 2/5 - 1
11-117073775-T-G c.46T>G p.Ser16Ala Missense 2/5 - 1
11-117073784-G-A c.55G>A p.Glu19Lys Missense 2/5 - 1
11-117073802-GAG-TTT c.73_75delinsTTT p.Glu25Phe Missense 2/5 - 1
11-117073850-G-A c.121G>A p.Asp41Asn Missense 2/5 - 1
11-117074127-T-A c.285T>A p.Ala95Ala Synonymous 3/5 - 1
11-117074127-T-C c.285T>C p.Ala95Ala Synonymous 3/5 - 1
11-117074127-T-G c.285T>G p.Ala95Ala Synonymous 3/5 - 1
11-117074131-TT-GC c.289_290delinsGC p.Phe97Ala Missense 3/5 - 1
11-117074229-T-C c.358+29T>C - IntronicSNV - 3/4 1
11-117074299-T-C c.358+99T>C - IntronicSNV - 3/4 1
11-117074506-A-G c.367A>G p.Met123Val Missense 4/5 - 1
11-117075010-AG-GA c.541_542delinsGA p.Ser181Asp Missense 5/5 - 2
11-117075014-A-G c.545A>G p.Asn182Ser Missense 5/5 - 1
11-117075016-A-G c.547A>G p.Arg183Gly Missense 5/5 - 1
11-117075199-C-T c.*124C>T - 3-UTRSNV 5/5 - 1
11-117075386-A-C c.*311A>C - 3-UTRSNV 5/5 - 1
11-117075566-C-T c.*491C>T - IntergenicSNV 5/5 - 12
11-117076564-A-G c.*1489A>G - IntergenicSNV 5/5 - 1
11-117076741-G-A c.*1666G>A - IntergenicSNV 5/5 - 1
11-117076843-G-A c.*1768G>A - IntergenicSNV 5/5 - 1
11-117076843-G-C c.*1768G>C - IntergenicSNV 5/5 - 1
11-117076972-C-A c.*1897C>A - IntergenicSNV 5/5 - 1
11-117076972-C-T c.*1897C>T - IntergenicSNV 5/5 - 1
11-117077009-A-C c.*1934A>C - IntergenicSNV 5/5 - 1
11-117077009-A-G c.*1934A>G - IntergenicSNV 5/5 - 1
11-117077009-A-T c.*1934A>T - IntergenicSNV 5/5 - 1