Canonical Allele Identifier: CA5168385

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104816297C>T , CM000671.2:g.104816297C>T	GRCh38
NC_000009.11:g.107578578C>T , CM000671.1:g.107578578C>T	GRCh37
NC_000009.10:g.106618399C>T	NCBI36
NG_007981.1:g.116859G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005502.4:c.3584G>A MANE Select	NP_005493.2:p.Arg1195Gln
ENST00000374736.8:c.3584G>A MANE Select	ENSP00000363868.3:p.Arg1195Gln
NM_005502.3:c.3584G>A	NP_005493.2:p.Arg1195Gln
ENST00000374736.7:c.3584G>A	ENSP00000363868.3:p.Arg1195Gln
ENST00000678995.1:c.3590G>A	ENSP00000504612.1:p.Arg1197Gln
XM_005251773.1:c.3590G>A	XP_005251830.1:p.Arg1197Gln
XM_005251773.3:c.3590G>A	XP_005251830.1:p.Arg1197Gln
XM_005251776.1:c.3410G>A	XP_005251833.1:p.Arg1137Gln
XM_005251776.3:c.3410G>A	XP_005251833.1:p.Arg1137Gln
XM_011518339.1:c.3665G>A	XP_011516641.1:p.Arg1222Gln
XM_011518339.3:c.3665G>A	XP_011516641.1:p.Arg1222Gln
XM_011518340.1:c.3665G>A	XP_011516642.1:p.Arg1222Gln
XM_011518340.3:c.3665G>A	XP_011516642.1:p.Arg1222Gln
XM_011518341.1:c.3659G>A	XP_011516643.1:p.Arg1220Gln
XM_011518341.3:c.3659G>A	XP_011516643.1:p.Arg1220Gln
XM_011518342.1:c.3227G>A	XP_011516644.1:p.Arg1076Gln
XM_011518342.3:c.3227G>A	XP_011516644.1:p.Arg1076Gln
XM_011518343.1:c.3665G>A	XP_011516645.1:p.Arg1222Gln
XM_011518344.1:c.3665G>A	XP_011516646.1:p.Arg1222Gln
XM_011518344.2:c.3665G>A	XP_011516646.1:p.Arg1222Gln
XM_017014378.2:c.3665G>A	XP_016869867.1:p.Arg1222Gln
XM_017014379.2:c.3665G>A	XP_016869868.1:p.Arg1222Gln
XM_017014380.2:c.3665G>A	XP_016869869.1:p.Arg1222Gln
XM_017014381.2:c.3665G>A	XP_016869870.1:p.Arg1222Gln
XM_017014382.2:c.3527G>A	XP_016869871.1:p.Arg1176Gln
XR_001746223.1:n.3978G>A