Canonical Allele Identifier: CA8974608

Gene: ATP8B1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57688442T>G , CM000680.2:g.57688442T>G	GRCh38
NC_000018.9:g.55355674T>G , CM000680.1:g.55355674T>G	GRCh37
NC_000018.8:g.53506672T>G	NCBI36
NG_007148.2:g.119654A>C
NG_007148.3:g.120381A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001374385.1:c.1286A>C MANE Select	NP_001361314.1:p.Glu429Ala
ENST00000648908.2:c.1286A>C MANE Select	ENSP00000497896.1:p.Glu429Ala
NM_001374386.1:c.1136A>C	NP_001361315.1:p.Glu379Ala
NM_005603.4:c.1286A>C	NP_005594.1:p.Glu429Ala
NM_005603.6:c.1286A>C	NP_005594.2:p.Glu429Ala
ENST00000283684.8:c.1286A>C	ENSP00000283684.4:p.Glu429Ala
ENST00000536015.5:c.1286A>C	ENSP00000445359.1:p.Glu429Ala
ENST00000588255.1:c.14A>C	ENSP00000468266.1:p.Glu5Ala
ENST00000642462.1:c.1286A>C	ENSP00000494712.1:p.Glu429Ala
ENST00000648039.1:c.1286A>C	ENSP00000497863.1:p.Glu429Ala
ENST00000648467.1:c.1119A>C
XM_006722481.2:c.1286A>C	XP_006722544.1:p.Glu429Ala
XM_006722481.4:c.1286A>C	XP_006722544.1:p.Glu429Ala
XM_011526020.1:c.1286A>C	XP_011524322.1:p.Glu429Ala
XM_011526021.1:c.1286A>C	XP_011524323.1:p.Glu429Ala
XM_011526022.1:c.1286A>C	XP_011524324.1:p.Glu429Ala
XM_011526023.1:c.1172A>C	XP_011524325.1:p.Glu391Ala
XM_011526023.3:c.1172A>C	XP_011524325.1:p.Glu391Ala
XM_011526024.1:c.566A>C	XP_011524326.1:p.Glu189Ala
XR_935525.1:n.31+1859T>G
XR_935526.1:n.31+1859T>G