Canonical Allele Identifier: CA5167822

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104794401G>A , CM000671.2:g.104794401G>A	GRCh38
NC_000009.11:g.107556682G>A , CM000671.1:g.107556682G>A	GRCh37
NC_000009.10:g.106596503G>A	NCBI36
NG_007981.1:g.138755C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005502.4:c.5492C>T MANE Select	NP_005493.2:p.Ala1831Val
ENST00000374736.8:c.5492C>T MANE Select	ENSP00000363868.3:p.Ala1831Val
NM_005502.3:c.5492C>T	NP_005493.2:p.Ala1831Val
ENST00000374736.7:c.5492C>T	ENSP00000363868.3:p.Ala1831Val
ENST00000678995.1:c.5498C>T	ENSP00000504612.1:p.Ala1833Val
XM_005251773.1:c.5498C>T	XP_005251830.1:p.Ala1833Val
XM_005251773.3:c.5498C>T	XP_005251830.1:p.Ala1833Val
XM_005251776.1:c.5318C>T	XP_005251833.1:p.Ala1773Val
XM_005251776.3:c.5318C>T	XP_005251833.1:p.Ala1773Val
XM_011518339.1:c.5573C>T	XP_011516641.1:p.Ala1858Val
XM_011518339.3:c.5573C>T	XP_011516641.1:p.Ala1858Val
XM_011518340.1:c.5573C>T	XP_011516642.1:p.Ala1858Val
XM_011518340.3:c.5573C>T	XP_011516642.1:p.Ala1858Val
XM_011518341.1:c.5567C>T	XP_011516643.1:p.Ala1856Val
XM_011518341.3:c.5567C>T	XP_011516643.1:p.Ala1856Val
XM_011518342.1:c.5135C>T	XP_011516644.1:p.Ala1712Val
XM_011518342.3:c.5135C>T	XP_011516644.1:p.Ala1712Val
XM_011518343.1:c.5573C>T	XP_011516645.1:p.Ala1858Val
XM_017014378.2:c.5573C>T	XP_016869867.1:p.Ala1858Val
XM_017014379.2:c.5573C>T	XP_016869868.1:p.Ala1858Val
XM_017014380.2:c.5573C>T	XP_016869869.1:p.Ala1858Val
XM_017014381.2:c.5573C>T	XP_016869870.1:p.Ala1858Val
XM_017014382.2:c.5435C>T	XP_016869871.1:p.Ala1812Val
XR_001746223.1:n.5886C>T