APOA1 apolipoprotein A1

Canonical transcript: NM_000039

72 unique variant annotations were identified in 164 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
11-116706596-G-C c.732C>G p.Pro244Pro Synonymous 4/4 - 1
11-116706610-G-A c.718C>T p.Gln240* Nonsense 4/4 - 1
11-116706658-G-A c.670C>T p.Leu224Leu Synonymous 4/4 - 1
11-116706659-A-G c.669T>C p.His223His Synonymous 4/4 - 1
11-116706672-T-C c.656A>G p.Lys219Arg Missense 4/4 - 1
11-116706703-C-T c.625G>A p.Gly209Ser Missense 4/4 - 1
11-116706710-C-CCA c.617_618insTG p.Lys206Asnfs*20 Frameshift 4/4 - 1
11-116706710-CTT-TGT c.617_618delinsCA p.Lys206Thr Missense 4/4 - 1
11-116706712-T-TC c.615_616insG p.Lys206Glufs*57 Frameshift 4/4 - 1
11-116706723-A-G c.605T>C p.Leu202Pro Missense 4/4 - 2
11-116706733-C-G c.595G>C p.Ala199Pro Missense 4/4 - 1
11-116706756-C-T c.572G>A p.Ser191Asn Missense 4/4 - 1
11-116706777-C-A c.551G>T p.Arg184Leu Missense 4/4 - 1
11-116706777-C-G c.551G>C p.Arg184Pro Missense 4/4 - 2
11-116706799-G-A c.529C>T p.Arg177Cys Missense 4/4 - 1
11-116706802-C-T c.526G>A p.Ala176Thr Missense 4/4 - 1
11-116706810-C-G c.518G>C p.Arg173Pro Missense 4/4 - 3
11-116706810-C-T c.518G>A p.Arg173His Missense 4/4 - 1
11-116706811-G-A c.517C>T p.Arg173Cys Missense 4/4 - 3
11-116706811-G-T c.517C>A p.Arg173Ser Missense 4/4 - 1
11-116706825-A-C c.503T>G p.Leu168Arg Missense 4/4 - 1
11-116706830-G-T c.498C>A p.Ser166Arg Missense 4/4 - 1
11-116706877-G-A c.451C>T p.Gln151* Nonsense 4/4 - 1
11-116706919-C-A c.409G>T p.Glu137* Nonsense 4/4 - 1
11-116706936-T-A c.392A>T p.Lys131Met Missense 4/4 - 3
11-116706940-TTCT-T c.391_393del p.Lys131del InFrameDeletion 4/4 - 3
11-116706946-A-T c.382T>A p.Phe128Ile Missense 4/4 - 1
11-116706948-TC-AG c.379_380delinsCT p.Asp127Leu Missense 4/4 - 1
11-116706952-C-G c.376G>C p.Asp126His Missense 4/4 - 3
11-116706987-A-G c.341T>C p.Leu114Pro Missense 4/4 - 1
11-116707001-C-T c.327G>A p.Glu109Glu Synonymous 4/4 - 1
11-116707032-A-G c.296T>C p.Leu99Pro Missense 4/4 - 1
11-116707044-A-T c.284T>A p.Phe95Tyr Missense 4/4 - 9
11-116707077-A-C c.251T>G p.Leu84Arg Missense 4/4 - 1
11-116707077-A-G c.251T>C p.Leu84Pro Missense 4/4 - 1
11-116707108-A-G c.220T>C p.Trp74Arg Missense 4/4 - 2
11-116707190-G-A c.201-63C>T - IntronicSNV - 3/3 1
11-116707191-C-G c.201-64G>C - IntronicSNV - 3/3 1
11-116707338-A-G c.201-211T>C - IntronicSNV - 3/3 6
11-116707401-G-A c.201-274C>T - IntronicSNV - 3/3 2
11-116707583-A-G c.200+134T>C - IntronicSNV - 3/3 16
11-116707684-A-C c.200+33T>G - IntronicSNV - 3/3 20
11-116707684-A-G c.200+33T>C - IntronicSNV - 3/3 20
11-116707734-G-A c.183C>T p.Ala61Ala Synonymous 3/4 - 1
11-116707736-C-T c.181G>A p.Ala61Thr Missense 3/4 - 7
11-116707739-A-C c.178T>G p.Ser60Ala Missense 3/4 - 4
11-116707739-A-G c.178T>C p.Ser60Pro Missense 3/4 - 2
11-116707745-C-T c.172G>A p.Glu58Lys Missense 3/4 - 2
11-116707779-G-A c.138C>T p.Leu46Leu Synonymous 3/4 - 1
11-116707796-C-A c.121G>T p.Val41Leu Missense 3/4 - 1
11-116707800-G-A c.117C>T p.Ala39Ala Synonymous 3/4 - 1
11-116707800-G-C c.117C>G p.Ala39Ala Synonymous 3/4 - 1
11-116707800-G-T c.117C>A p.Ala39Ala Synonymous 3/4 - 1
11-116707817-G-A c.100C>T p.Arg34* Nonsense 3/4 - 1
11-116707837-G-C c.80C>G p.Pro27Arg Missense 3/4 - 1
11-116707837-G-T c.80C>A p.Pro27His Missense 3/4 - 1
11-116707851-C-A c.66G>T p.Trp22Cys Missense 3/4 - 1
11-116707851-C-G c.66G>C p.Trp22Cys Missense 3/4 - 1
11-116707862-G-A c.55C>T p.Arg19Trp Missense 3/4 - 1
11-116708020-A-G c.43+41T>C - IntronicSNV - 2/3 12
11-116708066-AG-GC c.37_38delinsGC p.Leu13Ala Missense 2/4 - 2
11-116708092-C-T c.12G>A p.Ala4Ala Synonymous 2/4 - 1
11-116708095-A-G c.9T>C p.Ala3Ala Synonymous 2/4 - 1
11-116708114-C-T c.-11G>A - 5-UTRSNV 2/4 - 1
11-116708150-G-A c.-20-27C>T - IntronicSNV - 1/3 1
11-116708166-A-G c.-63T>C - IntronicSNV 1/4 - 1
11-116708253-C-T c.-21+68G>A - intron_variant - 1/3 9
11-116708254-G-A c.-21+67C>T - intron_variant - 1/3 13
11-116708360-C-A c.-60G>T - 5_prime_UTR_variant 1/4 - 1
11-116708413-C-T c.-113G>A - 5_prime_UTR_variant 1/4 - 45
11-116708523-C-G c.-223G>C - 5_prime_UTR_variant 1/4 - 2
11-116708663-T-G c.-363A>C - 5_prime_UTR_variant 1/4 - 1