Canonical Allele Identifier: CA5167628

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104788006T>C , CM000671.2:g.104788006T>C	GRCh38
NC_000009.11:g.107550287T>C , CM000671.1:g.107550287T>C	GRCh37
NC_000009.10:g.106590108T>C	NCBI36
NG_007981.1:g.145150A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005502.4:c.6118A>G MANE Select	NP_005493.2:p.Lys2040Glu
ENST00000374736.8:c.6118A>G MANE Select	ENSP00000363868.3:p.Lys2040Glu
NM_005502.3:c.6118A>G	NP_005493.2:p.Lys2040Glu
ENST00000374736.7:c.6118A>G	ENSP00000363868.3:p.Lys2040Glu
ENST00000678995.1:c.6124A>G	ENSP00000504612.1:p.Lys2042Glu
XM_005251773.1:c.6124A>G	XP_005251830.1:p.Lys2042Glu
XM_005251773.3:c.6124A>G	XP_005251830.1:p.Lys2042Glu
XM_005251776.1:c.5944A>G	XP_005251833.1:p.Lys1982Glu
XM_005251776.3:c.5944A>G	XP_005251833.1:p.Lys1982Glu
XM_011518339.1:c.6199A>G	XP_011516641.1:p.Lys2067Glu
XM_011518339.3:c.6199A>G	XP_011516641.1:p.Lys2067Glu
XM_011518340.1:c.6199A>G	XP_011516642.1:p.Lys2067Glu
XM_011518340.3:c.6199A>G	XP_011516642.1:p.Lys2067Glu
XM_011518341.1:c.6193A>G	XP_011516643.1:p.Lys2065Glu
XM_011518341.3:c.6193A>G	XP_011516643.1:p.Lys2065Glu
XM_011518342.1:c.5761A>G	XP_011516644.1:p.Lys1921Glu
XM_011518342.3:c.5761A>G	XP_011516644.1:p.Lys1921Glu
XM_011518343.1:c.6199A>G	XP_011516645.1:p.Lys2067Glu
XM_017014378.2:c.6199A>G	XP_016869867.1:p.Lys2067Glu
XM_017014379.2:c.6199A>G	XP_016869868.1:p.Lys2067Glu
XM_017014380.2:c.6199A>G	XP_016869869.1:p.Lys2067Glu
XM_017014381.2:c.6199A>G	XP_016869870.1:p.Lys2067Glu
XM_017014382.2:c.6061A>G	XP_016869871.1:p.Lys2021Glu
XR_001746223.1:n.6512A>G