Canonical Allele Identifier: CA120486

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 9496
• ClinVar RCV Id: RCV000010104
• dbSNP Id: rs137854497
• gnomAD v2: 9-107566949-G-A
• gnomAD v4: 9-104804668-G-A
• MyVariant Identifiers: chr9:g.107566949G>A (hg19) ; chr9:g.104804668G>A (hg38)
• PubMed: PMID:11476961

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104804668G>A , CM000671.2:g.104804668G>A	GRCh38
NC_000009.11:g.107566949G>A , CM000671.1:g.107566949G>A	GRCh37
NC_000009.10:g.106606770G>A	NCBI36
NG_007981.1:g.128488C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4517C>T MANE Select	ENSP00000363868.3:p.Ser1506Leu
ENST00000678995.1:c.4523C>T	ENSP00000504612.1:p.Ser1508Leu
ENST00000374736.7:c.4517C>T	ENSP00000363868.3:p.Ser1506Leu
NM_005502.3:c.4517C>T	NP_005493.2:p.Ser1506Leu
XM_005251773.1:c.4523C>T	XP_005251830.1:p.Ser1508Leu
XM_005251776.1:c.4343C>T	XP_005251833.1:p.Ser1448Leu
XM_011518339.1:c.4598C>T	XP_011516641.1:p.Ser1533Leu
XM_011518340.1:c.4598C>T	XP_011516642.1:p.Ser1533Leu
XM_011518341.1:c.4592C>T	XP_011516643.1:p.Ser1531Leu
XM_011518342.1:c.4160C>T	XP_011516644.1:p.Ser1387Leu
XM_011518343.1:c.4598C>T	XP_011516645.1:p.Ser1533Leu
XM_011518344.1:c.4629C>T	XP_011516646.1:p.Phe1543=
XM_005251773.3:c.4523C>T	XP_005251830.1:p.Ser1508Leu
XM_005251776.3:c.4343C>T	XP_005251833.1:p.Ser1448Leu
XM_011518339.3:c.4598C>T	XP_011516641.1:p.Ser1533Leu
XM_011518340.3:c.4598C>T	XP_011516642.1:p.Ser1533Leu
XM_011518341.3:c.4592C>T	XP_011516643.1:p.Ser1531Leu
XM_011518342.3:c.4160C>T	XP_011516644.1:p.Ser1387Leu
XM_011518344.2:c.4629C>T	XP_011516646.1:p.Phe1543=
XM_017014378.2:c.4598C>T	XP_016869867.1:p.Ser1533Leu
XM_017014379.2:c.4598C>T	XP_016869868.1:p.Ser1533Leu
XM_017014380.2:c.4598C>T	XP_016869869.1:p.Ser1533Leu
XM_017014381.2:c.4598C>T	XP_016869870.1:p.Ser1533Leu
XM_017014382.2:c.4460C>T	XP_016869871.1:p.Ser1487Leu
XR_001746223.1:n.4911C>T
NM_005502.4:c.4517C>T MANE Select	NP_005493.2:p.Ser1506Leu