Canonical Allele Identifier: CA1869947678

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104818743G= , CM000671.2:g.104818743G=	GRCh38
NC_000009.11:g.107581024G= , CM000671.1:g.107581024G=	GRCh37
NC_000009.10:g.106620845G=	NCBI36
NG_007981.1:g.114413C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.3382C= MANE Select	ENSP00000363868.3:p.Leu1128=
ENST00000678995.1:c.3382C=	ENSP00000504612.1:p.Leu1128=
ENST00000374736.7:c.3382C=	ENSP00000363868.3:p.Leu1128=
NM_005502.3:c.3382C=	NP_005493.2:p.Leu1128=
XM_005251773.1:c.3382C=	XP_005251830.1:p.Leu1128=
XM_005251776.1:c.3202C=	XP_005251833.1:p.Leu1068=
XM_011518339.1:c.3457C=	XP_011516641.1:p.Leu1153=
XM_011518340.1:c.3457C=	XP_011516642.1:p.Leu1153=
XM_011518341.1:c.3457C=	XP_011516643.1:p.Leu1153=
XM_011518342.1:c.3019C=	XP_011516644.1:p.Leu1007=
XM_011518343.1:c.3457C=	XP_011516645.1:p.Leu1153=
XM_011518344.1:c.3457C=	XP_011516646.1:p.Leu1153=
XM_005251773.3:c.3382C=	XP_005251830.1:p.Leu1128=
XM_005251776.3:c.3202C=	XP_005251833.1:p.Leu1068=
XM_011518339.3:c.3457C=	XP_011516641.1:p.Leu1153=
XM_011518340.3:c.3457C=	XP_011516642.1:p.Leu1153=
XM_011518341.3:c.3457C=	XP_011516643.1:p.Leu1153=
XM_011518342.3:c.3019C=	XP_011516644.1:p.Leu1007=
XM_011518344.2:c.3457C=	XP_011516646.1:p.Leu1153=
XM_017014378.2:c.3457C=	XP_016869867.1:p.Leu1153=
XM_017014379.2:c.3457C=	XP_016869868.1:p.Leu1153=
XM_017014380.2:c.3457C=	XP_016869869.1:p.Leu1153=
XM_017014381.2:c.3457C=	XP_016869870.1:p.Leu1153=
XM_017014382.2:c.3319C=	XP_016869871.1:p.Leu1107=
XR_001746223.1:n.3770C=
NM_005502.4:c.3382C= MANE Select	NP_005493.2:p.Leu1128=