Canonical Allele Identifier: CA5169461

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 364464
• ClinVar RCV Id: RCV000288931 ; RCV000346255 ; RCV002282127 ; RCV001490534
• dbSNP Id: rs145183203
• ExAC: 9:107646756 G / A
• gnomAD v2: 9-107646756-G-A
• gnomAD v3: 9-104884475-G-A
• gnomAD v4: 9-104884475-G-A
• COSMIC: COSM1238080
• MyVariant Identifiers: chr9:g.107646756G>A (hg19) ; chr9:g.104884475G>A (hg38)
• PubMed: PMID:12204794 ; PMID:12763760 ; PMID:15297675 ; PMID:23770607

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104884475G>A , CM000671.2:g.104884475G>A	GRCh38
NC_000009.11:g.107646756G>A , CM000671.1:g.107646756G>A	GRCh37
NC_000009.10:g.106686577G>A	NCBI36
NG_007981.1:g.48681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.254C>T MANE Select	ENSP00000363868.3:p.Pro85Leu
ENST00000678995.1:c.254C>T	ENSP00000504612.1:p.Pro85Leu
ENST00000374733.1:c.74C>T	ENSP00000363865.1:p.Pro25Leu
ENST00000374736.7:c.254C>T	ENSP00000363868.3:p.Pro85Leu
ENST00000423487.6:c.254C>T	ENSP00000416623.2:p.Pro85Leu
NM_005502.3:c.254C>T	NP_005493.2:p.Pro85Leu
XM_005251773.1:c.254C>T	XP_005251830.1:p.Pro85Leu
XM_005251776.1:c.74C>T	XP_005251833.1:p.Pro25Leu
XM_011518339.1:c.329C>T	XP_011516641.1:p.Pro110Leu
XM_011518340.1:c.329C>T	XP_011516642.1:p.Pro110Leu
XM_011518341.1:c.329C>T	XP_011516643.1:p.Pro110Leu
XM_011518342.1:c.-61-1318C>T	XP_011516644.1:n.-61-1318C>T
XM_011518343.1:c.329C>T	XP_011516645.1:p.Pro110Leu
XM_011518344.1:c.329C>T	XP_011516646.1:p.Pro110Leu
XM_005251773.3:c.254C>T	XP_005251830.1:p.Pro85Leu
XM_005251776.3:c.74C>T	XP_005251833.1:p.Pro25Leu
XM_011518339.3:c.329C>T	XP_011516641.1:p.Pro110Leu
XM_011518340.3:c.329C>T	XP_011516642.1:p.Pro110Leu
XM_011518341.3:c.329C>T	XP_011516643.1:p.Pro110Leu
XM_011518342.3:c.-61-1318C>T	XP_011516644.1:n.-61-1318C>T
XM_011518344.2:c.329C>T	XP_011516646.1:p.Pro110Leu
XM_017014378.2:c.329C>T	XP_016869867.1:p.Pro110Leu
XM_017014379.2:c.329C>T	XP_016869868.1:p.Pro110Leu
XM_017014380.2:c.329C>T	XP_016869869.1:p.Pro110Leu
XM_017014381.2:c.329C>T	XP_016869870.1:p.Pro110Leu
XM_017014382.2:c.191C>T	XP_016869871.1:p.Pro64Leu
XR_001746223.1:n.642C>T
NM_005502.4:c.254C>T MANE Select	NP_005493.2:p.Pro85Leu