Canonical Allele Identifier: CA1869916113

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104798540C= , CM000671.2:g.104798540C=	GRCh38
NC_000009.11:g.107560821C= , CM000671.1:g.107560821C=	GRCh37
NC_000009.10:g.106600642C=	NCBI36
NG_007981.1:g.134616G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.5002G= MANE Select	ENSP00000363868.3:p.Val1668=
ENST00000678995.1:c.5008G=	ENSP00000504612.1:p.Val1670=
ENST00000374736.7:c.5002G=	ENSP00000363868.3:p.Val1668=
NM_005502.3:c.5002G=	NP_005493.2:p.Val1668=
XM_005251773.1:c.5008G=	XP_005251830.1:p.Val1670=
XM_005251776.1:c.4828G=	XP_005251833.1:p.Val1610=
XM_011518339.1:c.5083G=	XP_011516641.1:p.Val1695=
XM_011518340.1:c.5083G=	XP_011516642.1:p.Val1695=
XM_011518341.1:c.5077G=	XP_011516643.1:p.Val1693=
XM_011518342.1:c.4645G=	XP_011516644.1:p.Val1549=
XM_011518343.1:c.5083G=	XP_011516645.1:p.Val1695=
XM_005251773.3:c.5008G=	XP_005251830.1:p.Val1670=
XM_005251776.3:c.4828G=	XP_005251833.1:p.Val1610=
XM_011518339.3:c.5083G=	XP_011516641.1:p.Val1695=
XM_011518340.3:c.5083G=	XP_011516642.1:p.Val1695=
XM_011518341.3:c.5077G=	XP_011516643.1:p.Val1693=
XM_011518342.3:c.4645G=	XP_011516644.1:p.Val1549=
XM_017014378.2:c.5083G=	XP_016869867.1:p.Val1695=
XM_017014379.2:c.5083G=	XP_016869868.1:p.Val1695=
XM_017014380.2:c.5083G=	XP_016869869.1:p.Val1695=
XM_017014381.2:c.5083G=	XP_016869870.1:p.Val1695=
XM_017014382.2:c.4945G=	XP_016869871.1:p.Val1649=
XR_001746223.1:n.5396G=
NM_005502.4:c.5002G= MANE Select	NP_005493.2:p.Val1668=