Canonical Allele Identifier: CA374324717
Gene: ABCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1777205
dbSNP Id: rs1248100757

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104831688T>A , CM000671.2:g.104831688T>A GRCh38
NC_000009.11:g.107593969T>A , CM000671.1:g.107593969T>A GRCh37
NC_000009.10:g.106633790T>A NCBI36
NG_007981.1:g.101468A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.1649A>T MANE Select ENSP00000363868.3:p.His550Leu
ENST00000678995.1:c.1649A>T ENSP00000504612.1:p.His550Leu
ENST00000374736.7:c.1649A>T ENSP00000363868.3:p.His550Leu
NM_005502.3:c.1649A>T NP_005493.2:p.His550Leu
XM_005251773.1:c.1649A>T XP_005251830.1:p.His550Leu
XM_005251776.1:c.1469A>T XP_005251833.1:p.His490Leu
XM_011518339.1:c.1724A>T XP_011516641.1:p.His575Leu
XM_011518340.1:c.1724A>T XP_011516642.1:p.His575Leu
XM_011518341.1:c.1724A>T XP_011516643.1:p.His575Leu
XM_011518342.1:c.1286A>T XP_011516644.1:p.His429Leu
XM_011518343.1:c.1724A>T XP_011516645.1:p.His575Leu
XM_011518344.1:c.1724A>T XP_011516646.1:p.His575Leu
XM_005251773.3:c.1649A>T XP_005251830.1:p.His550Leu
XM_005251776.3:c.1469A>T XP_005251833.1:p.His490Leu
XM_011518339.3:c.1724A>T XP_011516641.1:p.His575Leu
XM_011518340.3:c.1724A>T XP_011516642.1:p.His575Leu
XM_011518341.3:c.1724A>T XP_011516643.1:p.His575Leu
XM_011518342.3:c.1286A>T XP_011516644.1:p.His429Leu
XM_011518344.2:c.1724A>T XP_011516646.1:p.His575Leu
XM_017014378.2:c.1724A>T XP_016869867.1:p.His575Leu
XM_017014379.2:c.1724A>T XP_016869868.1:p.His575Leu
XM_017014380.2:c.1724A>T XP_016869869.1:p.His575Leu
XM_017014381.2:c.1724A>T XP_016869870.1:p.His575Leu
XM_017014382.2:c.1586A>T XP_016869871.1:p.His529Leu
XR_001746223.1:n.2037A>T
NM_005502.4:c.1649A>T MANE Select NP_005493.2:p.His550Leu