Canonical Allele Identifier: CA5167508

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104785442C>T , CM000671.2:g.104785442C>T	GRCh38
NC_000009.11:g.107547723C>T , CM000671.1:g.107547723C>T	GRCh37
NC_000009.10:g.106587544C>T	NCBI36
NG_007981.1:g.147714G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005502.4:c.6599G>A MANE Select	NP_005493.2:p.Arg2200Gln
ENST00000374736.8:c.6599G>A MANE Select	ENSP00000363868.3:p.Arg2200Gln
NM_005502.3:c.6599G>A	NP_005493.2:p.Arg2200Gln
ENST00000374736.7:c.6599G>A	ENSP00000363868.3:p.Arg2200Gln
ENST00000678995.1:c.6605G>A	ENSP00000504612.1:p.Arg2202Gln
XM_005251773.1:c.6605G>A	XP_005251830.1:p.Arg2202Gln
XM_005251773.3:c.6605G>A	XP_005251830.1:p.Arg2202Gln
XM_005251776.1:c.6425G>A	XP_005251833.1:p.Arg2142Gln
XM_005251776.3:c.6425G>A	XP_005251833.1:p.Arg2142Gln
XM_011518339.1:c.6680G>A	XP_011516641.1:p.Arg2227Gln
XM_011518339.3:c.6680G>A	XP_011516641.1:p.Arg2227Gln
XM_011518340.1:c.6680G>A	XP_011516642.1:p.Arg2227Gln
XM_011518340.3:c.6680G>A	XP_011516642.1:p.Arg2227Gln
XM_011518341.1:c.6674G>A	XP_011516643.1:p.Arg2225Gln
XM_011518341.3:c.6674G>A	XP_011516643.1:p.Arg2225Gln
XM_011518342.1:c.6242G>A	XP_011516644.1:p.Arg2081Gln
XM_011518342.3:c.6242G>A	XP_011516644.1:p.Arg2081Gln
XM_017014378.2:c.6680G>A	XP_016869867.1:p.Arg2227Gln
XM_017014379.2:c.6680G>A	XP_016869868.1:p.Arg2227Gln
XM_017014380.2:c.6680G>A	XP_016869869.1:p.Arg2227Gln
XM_017014381.2:c.6680G>A	XP_016869870.1:p.Arg2227Gln
XM_017014382.2:c.6542G>A	XP_016869871.1:p.Arg2181Gln