Canonical Allele Identifier: CA466504279

Gene: ABCA1

Linked Data

• MyVariant Identifiers: chr9:g.107568534C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104806253C>A , CM000671.2:g.104806253C>A	GRCh38
NC_000009.11:g.107568534C>A , CM000671.1:g.107568534C>A	GRCh37
NC_000009.10:g.106608355C>A	NCBI36
NG_007981.1:g.126903G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4452G>T MANE Select	ENSP00000363868.3:p.Leu1484=
ENST00000678995.1:c.4458G>T	ENSP00000504612.1:p.Leu1486=
ENST00000374736.7:c.4452G>T	ENSP00000363868.3:p.Leu1484=
NM_005502.3:c.4452G>T	NP_005493.2:p.Leu1484=
XM_005251773.1:c.4458G>T	XP_005251830.1:p.Leu1486=
XM_005251776.1:c.4278G>T	XP_005251833.1:p.Leu1426=
XM_011518339.1:c.4533G>T	XP_011516641.1:p.Leu1511=
XM_011518340.1:c.4533G>T	XP_011516642.1:p.Leu1511=
XM_011518341.1:c.4527G>T	XP_011516643.1:p.Leu1509=
XM_011518342.1:c.4095G>T	XP_011516644.1:p.Leu1365=
XM_011518343.1:c.4533G>T	XP_011516645.1:p.Leu1511=
XM_011518344.1:c.4533G>T	XP_011516646.1:p.Leu1511=
XM_005251773.3:c.4458G>T	XP_005251830.1:p.Leu1486=
XM_005251776.3:c.4278G>T	XP_005251833.1:p.Leu1426=
XM_011518339.3:c.4533G>T	XP_011516641.1:p.Leu1511=
XM_011518340.3:c.4533G>T	XP_011516642.1:p.Leu1511=
XM_011518341.3:c.4527G>T	XP_011516643.1:p.Leu1509=
XM_011518342.3:c.4095G>T	XP_011516644.1:p.Leu1365=
XM_011518344.2:c.4533G>T	XP_011516646.1:p.Leu1511=
XM_017014378.2:c.4533G>T	XP_016869867.1:p.Leu1511=
XM_017014379.2:c.4533G>T	XP_016869868.1:p.Leu1511=
XM_017014380.2:c.4533G>T	XP_016869869.1:p.Leu1511=
XM_017014381.2:c.4533G>T	XP_016869870.1:p.Leu1511=
XM_017014382.2:c.4395G>T	XP_016869871.1:p.Leu1465=
XR_001746223.1:n.4846G>T
NM_005502.4:c.4452G>T MANE Select	NP_005493.2:p.Leu1484=