Canonical Allele Identifier: CA374325058

Gene: ABCA1

Linked Data

• dbSNP Id: rs1268377517
• gnomAD v2: 9-107594064-C-A
• gnomAD v4: 9-104831783-C-A
• MyVariant Identifiers: chr9:g.107594064C>A (hg19) ; chr9:g.104831783C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831783C>A , CM000671.2:g.104831783C>A	GRCh38
NC_000009.11:g.107594064C>A , CM000671.1:g.107594064C>A	GRCh37
NC_000009.10:g.106633885C>A	NCBI36
NG_007981.1:g.101373G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1554G>T MANE Select	ENSP00000363868.3:p.Trp518Cys
ENST00000678995.1:c.1554G>T	ENSP00000504612.1:p.Trp518Cys
ENST00000374736.7:c.1554G>T	ENSP00000363868.3:p.Trp518Cys
NM_005502.3:c.1554G>T	NP_005493.2:p.Trp518Cys
XM_005251773.1:c.1554G>T	XP_005251830.1:p.Trp518Cys
XM_005251776.1:c.1374G>T	XP_005251833.1:p.Trp458Cys
XM_011518339.1:c.1629G>T	XP_011516641.1:p.Trp543Cys
XM_011518340.1:c.1629G>T	XP_011516642.1:p.Trp543Cys
XM_011518341.1:c.1629G>T	XP_011516643.1:p.Trp543Cys
XM_011518342.1:c.1191G>T	XP_011516644.1:p.Trp397Cys
XM_011518343.1:c.1629G>T	XP_011516645.1:p.Trp543Cys
XM_011518344.1:c.1629G>T	XP_011516646.1:p.Trp543Cys
XM_005251773.3:c.1554G>T	XP_005251830.1:p.Trp518Cys
XM_005251776.3:c.1374G>T	XP_005251833.1:p.Trp458Cys
XM_011518339.3:c.1629G>T	XP_011516641.1:p.Trp543Cys
XM_011518340.3:c.1629G>T	XP_011516642.1:p.Trp543Cys
XM_011518341.3:c.1629G>T	XP_011516643.1:p.Trp543Cys
XM_011518342.3:c.1191G>T	XP_011516644.1:p.Trp397Cys
XM_011518344.2:c.1629G>T	XP_011516646.1:p.Trp543Cys
XM_017014378.2:c.1629G>T	XP_016869867.1:p.Trp543Cys
XM_017014379.2:c.1629G>T	XP_016869868.1:p.Trp543Cys
XM_017014380.2:c.1629G>T	XP_016869869.1:p.Trp543Cys
XM_017014381.2:c.1629G>T	XP_016869870.1:p.Trp543Cys
XM_017014382.2:c.1491G>T	XP_016869871.1:p.Trp497Cys
XR_001746223.1:n.1942G>T
NM_005502.4:c.1554G>T MANE Select	NP_005493.2:p.Trp518Cys