Canonical Allele Identifier: CA5169380

Gene: ABCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104861748C>T , CM000671.2:g.104861748C>T	GRCh38
NC_000009.11:g.107624029C>T , CM000671.1:g.107624029C>T	GRCh37
NC_000009.10:g.106663850C>T	NCBI36
NG_007981.1:g.71408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.474G>A MANE Select	ENSP00000363868.3:p.Leu158=
ENST00000678995.1:c.474G>A	ENSP00000504612.1:p.Leu158=
ENST00000374733.1:c.294G>A	ENSP00000363865.1:p.Leu98=
ENST00000374736.7:c.474G>A	ENSP00000363868.3:p.Leu158=
ENST00000423487.6:c.474G>A	ENSP00000416623.2:p.Leu158=
NM_005502.3:c.474G>A	NP_005493.2:p.Leu158=
XM_005251773.1:c.474G>A	XP_005251830.1:p.Leu158=
XM_005251776.1:c.294G>A	XP_005251833.1:p.Leu98=
XM_011518339.1:c.549G>A	XP_011516641.1:p.Leu183=
XM_011518340.1:c.549G>A	XP_011516642.1:p.Leu183=
XM_011518341.1:c.549G>A	XP_011516643.1:p.Leu183=
XM_011518342.1:c.111G>A	XP_011516644.1:p.Leu37=
XM_011518343.1:c.549G>A	XP_011516645.1:p.Leu183=
XM_011518344.1:c.549G>A	XP_011516646.1:p.Leu183=
XM_005251773.3:c.474G>A	XP_005251830.1:p.Leu158=
XM_005251776.3:c.294G>A	XP_005251833.1:p.Leu98=
XM_011518339.3:c.549G>A	XP_011516641.1:p.Leu183=
XM_011518340.3:c.549G>A	XP_011516642.1:p.Leu183=
XM_011518341.3:c.549G>A	XP_011516643.1:p.Leu183=
XM_011518342.3:c.111G>A	XP_011516644.1:p.Leu37=
XM_011518344.2:c.549G>A	XP_011516646.1:p.Leu183=
XM_017014378.2:c.549G>A	XP_016869867.1:p.Leu183=
XM_017014379.2:c.549G>A	XP_016869868.1:p.Leu183=
XM_017014380.2:c.549G>A	XP_016869869.1:p.Leu183=
XM_017014381.2:c.549G>A	XP_016869870.1:p.Leu183=
XM_017014382.2:c.411G>A	XP_016869871.1:p.Leu137=
XR_001746223.1:n.862G>A
NM_005502.4:c.474G>A MANE Select	NP_005493.2:p.Leu158=