Canonical Allele Identifier: CA2785410061

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104928078T>C , CM000671.2:g.104928078T>C	GRCh38
NC_000009.11:g.107690359T>C , CM000671.1:g.107690359T>C	GRCh37
NC_000009.10:g.106730180T>C	NCBI36
NG_007981.1:g.5078A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.-236A>G MANE Select	ENSP00000363868.3:n.-236A>G
ENST00000678995.1:c.-236A>G	ENSP00000504612.1:n.-236A>G
ENST00000374733.1:c.-258A>G	ENSP00000363865.1:n.-258A>G
ENST00000374736.7:c.-236A>G	ENSP00000363868.3:n.-236A>G
ENST00000423487.6:c.-236A>G	ENSP00000416623.2:n.-236A>G
NM_005502.3:c.-236A>G	NP_005493.2:n.-236A>G
XM_005251773.1:c.-236A>G	XP_005251830.1:n.-236A>G
XM_005251776.1:c.-258A>G	XP_005251833.1:n.-258A>G
XM_011518339.1:c.-236A>G	XP_011516641.1:n.-236A>G
XM_011518341.1:c.-236A>G	XP_011516643.1:n.-236A>G
XM_011518342.1:c.-299A>G	XP_011516644.1:n.-299A>G
XM_011518343.1:c.-236A>G	XP_011516645.1:n.-236A>G
XM_011518344.1:c.-236A>G	XP_011516646.1:n.-236A>G
XR_930204.1:n.734+168T>C
XM_005251773.3:c.-236A>G	XP_005251830.1:n.-236A>G
XM_005251776.3:c.-258A>G	XP_005251833.1:n.-258A>G
XM_011518339.3:c.-236A>G	XP_011516641.1:n.-236A>G
XM_011518341.3:c.-236A>G	XP_011516643.1:n.-236A>G
XM_011518342.3:c.-299A>G	XP_011516644.1:n.-299A>G
XM_011518344.2:c.-236A>G	XP_011516646.1:n.-236A>G
XR_001746223.1:n.78A>G
XR_930204.2:n.115+168T>C
NM_005502.4:c.-236A>G MANE Select	NP_005493.2:n.-236A>G