Canonical Allele Identifier: CA374324734

Gene: ABCA1

Linked Data

• MyVariant Identifiers: chr9:g.107593977C>A (hg19) ; chr9:g.104831696C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831696C>A , CM000671.2:g.104831696C>A	GRCh38
NC_000009.11:g.107593977C>A , CM000671.1:g.107593977C>A	GRCh37
NC_000009.10:g.106633798C>A	NCBI36
NG_007981.1:g.101460G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1641G>T MANE Select	ENSP00000363868.3:p.Glu547Asp
ENST00000678995.1:c.1641G>T	ENSP00000504612.1:p.Glu547Asp
ENST00000374736.7:c.1641G>T	ENSP00000363868.3:p.Glu547Asp
NM_005502.3:c.1641G>T	NP_005493.2:p.Glu547Asp
XM_005251773.1:c.1641G>T	XP_005251830.1:p.Glu547Asp
XM_005251776.1:c.1461G>T	XP_005251833.1:p.Glu487Asp
XM_011518339.1:c.1716G>T	XP_011516641.1:p.Glu572Asp
XM_011518340.1:c.1716G>T	XP_011516642.1:p.Glu572Asp
XM_011518341.1:c.1716G>T	XP_011516643.1:p.Glu572Asp
XM_011518342.1:c.1278G>T	XP_011516644.1:p.Glu426Asp
XM_011518343.1:c.1716G>T	XP_011516645.1:p.Glu572Asp
XM_011518344.1:c.1716G>T	XP_011516646.1:p.Glu572Asp
XM_005251773.3:c.1641G>T	XP_005251830.1:p.Glu547Asp
XM_005251776.3:c.1461G>T	XP_005251833.1:p.Glu487Asp
XM_011518339.3:c.1716G>T	XP_011516641.1:p.Glu572Asp
XM_011518340.3:c.1716G>T	XP_011516642.1:p.Glu572Asp
XM_011518341.3:c.1716G>T	XP_011516643.1:p.Glu572Asp
XM_011518342.3:c.1278G>T	XP_011516644.1:p.Glu426Asp
XM_011518344.2:c.1716G>T	XP_011516646.1:p.Glu572Asp
XM_017014378.2:c.1716G>T	XP_016869867.1:p.Glu572Asp
XM_017014379.2:c.1716G>T	XP_016869868.1:p.Glu572Asp
XM_017014380.2:c.1716G>T	XP_016869869.1:p.Glu572Asp
XM_017014381.2:c.1716G>T	XP_016869870.1:p.Glu572Asp
XM_017014382.2:c.1578G>T	XP_016869871.1:p.Glu526Asp
XR_001746223.1:n.2029G>T
NM_005502.4:c.1641G>T MANE Select	NP_005493.2:p.Glu547Asp