Canonical Allele Identifier: CA197397027

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 1717507
• ClinVar RCV Id: RCV002296409
• dbSNP Id: rs888236394
• gnomAD v3: 9-104831722-T-G
• gnomAD v4: 9-104831722-T-G
• MyVariant Identifiers: chr9:g.107594003T>G (hg19) ; chr9:g.104831722T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831722T>G , CM000671.2:g.104831722T>G	GRCh38
NC_000009.11:g.107594003T>G , CM000671.1:g.107594003T>G	GRCh37
NC_000009.10:g.106633824T>G	NCBI36
NG_007981.1:g.101434A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1615A>C MANE Select	ENSP00000363868.3:p.Thr539Pro
ENST00000678995.1:c.1615A>C	ENSP00000504612.1:p.Thr539Pro
ENST00000374736.7:c.1615A>C	ENSP00000363868.3:p.Thr539Pro
NM_005502.3:c.1615A>C	NP_005493.2:p.Thr539Pro
XM_005251773.1:c.1615A>C	XP_005251830.1:p.Thr539Pro
XM_005251776.1:c.1435A>C	XP_005251833.1:p.Thr479Pro
XM_011518339.1:c.1690A>C	XP_011516641.1:p.Thr564Pro
XM_011518340.1:c.1690A>C	XP_011516642.1:p.Thr564Pro
XM_011518341.1:c.1690A>C	XP_011516643.1:p.Thr564Pro
XM_011518342.1:c.1252A>C	XP_011516644.1:p.Thr418Pro
XM_011518343.1:c.1690A>C	XP_011516645.1:p.Thr564Pro
XM_011518344.1:c.1690A>C	XP_011516646.1:p.Thr564Pro
XM_005251773.3:c.1615A>C	XP_005251830.1:p.Thr539Pro
XM_005251776.3:c.1435A>C	XP_005251833.1:p.Thr479Pro
XM_011518339.3:c.1690A>C	XP_011516641.1:p.Thr564Pro
XM_011518340.3:c.1690A>C	XP_011516642.1:p.Thr564Pro
XM_011518341.3:c.1690A>C	XP_011516643.1:p.Thr564Pro
XM_011518342.3:c.1252A>C	XP_011516644.1:p.Thr418Pro
XM_011518344.2:c.1690A>C	XP_011516646.1:p.Thr564Pro
XM_017014378.2:c.1690A>C	XP_016869867.1:p.Thr564Pro
XM_017014379.2:c.1690A>C	XP_016869868.1:p.Thr564Pro
XM_017014380.2:c.1690A>C	XP_016869869.1:p.Thr564Pro
XM_017014381.2:c.1690A>C	XP_016869870.1:p.Thr564Pro
XM_017014382.2:c.1552A>C	XP_016869871.1:p.Thr518Pro
XR_001746223.1:n.2003A>C
NM_005502.4:c.1615A>C MANE Select	NP_005493.2:p.Thr539Pro