Canonical Allele Identifier: CA1869929725

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104806300T= , CM000671.2:g.104806300T=	GRCh38
NC_000009.11:g.107568581T= , CM000671.1:g.107568581T=	GRCh37
NC_000009.10:g.106608402T=	NCBI36
NG_007981.1:g.126856A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4405A= MANE Select	ENSP00000363868.3:p.Lys1469=
ENST00000678995.1:c.4411A=	ENSP00000504612.1:p.Lys1471=
ENST00000374736.7:c.4405A=	ENSP00000363868.3:p.Lys1469=
NM_005502.3:c.4405A=	NP_005493.2:p.Lys1469=
XM_005251773.1:c.4411A=	XP_005251830.1:p.Lys1471=
XM_005251776.1:c.4231A=	XP_005251833.1:p.Lys1411=
XM_011518339.1:c.4486A=	XP_011516641.1:p.Lys1496=
XM_011518340.1:c.4486A=	XP_011516642.1:p.Lys1496=
XM_011518341.1:c.4480A=	XP_011516643.1:p.Lys1494=
XM_011518342.1:c.4048A=	XP_011516644.1:p.Lys1350=
XM_011518343.1:c.4486A=	XP_011516645.1:p.Lys1496=
XM_011518344.1:c.4486A=	XP_011516646.1:p.Lys1496=
XM_005251773.3:c.4411A=	XP_005251830.1:p.Lys1471=
XM_005251776.3:c.4231A=	XP_005251833.1:p.Lys1411=
XM_011518339.3:c.4486A=	XP_011516641.1:p.Lys1496=
XM_011518340.3:c.4486A=	XP_011516642.1:p.Lys1496=
XM_011518341.3:c.4480A=	XP_011516643.1:p.Lys1494=
XM_011518342.3:c.4048A=	XP_011516644.1:p.Lys1350=
XM_011518344.2:c.4486A=	XP_011516646.1:p.Lys1496=
XM_017014378.2:c.4486A=	XP_016869867.1:p.Lys1496=
XM_017014379.2:c.4486A=	XP_016869868.1:p.Lys1496=
XM_017014380.2:c.4486A=	XP_016869869.1:p.Lys1496=
XM_017014381.2:c.4486A=	XP_016869870.1:p.Lys1496=
XM_017014382.2:c.4348A=	XP_016869871.1:p.Lys1450=
XR_001746223.1:n.4799A=
NM_005502.4:c.4405A= MANE Select	NP_005493.2:p.Lys1469=