Canonical Allele Identifier: CA466495612

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104786940G>T , CM000671.2:g.104786940G>T	GRCh38
NC_000009.11:g.107549221G>T , CM000671.1:g.107549221G>T	GRCh37
NC_000009.10:g.106589042G>T	NCBI36
NG_007981.1:g.146216C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005502.4:c.6241C>A MANE Select	NP_005493.2:p.Arg2081=
ENST00000374736.8:c.6241C>A MANE Select	ENSP00000363868.3:p.Arg2081=
NM_005502.3:c.6241C>A	NP_005493.2:p.Arg2081=
ENST00000374736.7:c.6241C>A	ENSP00000363868.3:p.Arg2081=
ENST00000678995.1:c.6247C>A	ENSP00000504612.1:p.Arg2083=
XM_005251773.1:c.6247C>A	XP_005251830.1:p.Arg2083=
XM_005251773.3:c.6247C>A	XP_005251830.1:p.Arg2083=
XM_005251776.1:c.6067C>A	XP_005251833.1:p.Arg2023=
XM_005251776.3:c.6067C>A	XP_005251833.1:p.Arg2023=
XM_011518339.1:c.6322C>A	XP_011516641.1:p.Arg2108=
XM_011518339.3:c.6322C>A	XP_011516641.1:p.Arg2108=
XM_011518340.1:c.6322C>A	XP_011516642.1:p.Arg2108=
XM_011518340.3:c.6322C>A	XP_011516642.1:p.Arg2108=
XM_011518341.1:c.6316C>A	XP_011516643.1:p.Arg2106=
XM_011518341.3:c.6316C>A	XP_011516643.1:p.Arg2106=
XM_011518342.1:c.5884C>A	XP_011516644.1:p.Arg1962=
XM_011518342.3:c.5884C>A	XP_011516644.1:p.Arg1962=
XM_011518343.1:c.6286-550C>A	XP_011516645.1:n.6286-550C>A
XM_017014378.2:c.6322C>A	XP_016869867.1:p.Arg2108=
XM_017014379.2:c.6322C>A	XP_016869868.1:p.Arg2108=
XM_017014380.2:c.6322C>A	XP_016869869.1:p.Arg2108=
XM_017014381.2:c.6322C>A	XP_016869870.1:p.Arg2108=
XM_017014382.2:c.6184C>A	XP_016869871.1:p.Arg2062=
XR_001746223.1:n.6599-550C>A