Canonical Allele Identifier: CA504013850

Gene: ATP8B1 ATP8B1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57652633A>G , CM000680.2:g.57652633A>G	GRCh38
NC_000018.9:g.55319865A>G , CM000680.1:g.55319865A>G	GRCh37
NC_000018.8:g.53470863A>G	NCBI36
NG_007148.2:g.155463T>C
NG_007148.3:g.156190T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.*344T>C (ATP8B1)	ENSP00000494712.1:n.*344T>C
ENST00000648039.1:c.*344T>C (ATP8B1)	ENSP00000497863.1:n.*344T>C
ENST00000648908.2:c.3112T>C (ATP8B1) MANE Select	ENSP00000497896.1:p.Leu1038=
ENST00000283684.8:c.3112T>C (ATP8B1)	ENSP00000283684.4:p.Leu1038=
ENST00000536015.5:c.3112T>C (ATP8B1)	ENSP00000445359.1:p.Leu1038=
NM_001242804.1:c.139+10581A>G (ATP8B1-AS1)	NP_001229733.1:n.139+10581A>G
NM_005603.4:c.3112T>C (ATP8B1)	NP_005594.1:p.Leu1038=
XM_006722481.2:c.3112T>C (ATP8B1)	XP_006722544.1:p.Leu1038=
XM_011526020.1:c.3112T>C (ATP8B1)	XP_011524322.1:p.Leu1038=
XM_011526021.1:c.3112T>C (ATP8B1)	XP_011524323.1:p.Leu1038=
XM_011526022.1:c.3112T>C (ATP8B1)	XP_011524324.1:p.Leu1038=
XM_011526023.1:c.2998T>C (ATP8B1)	XP_011524325.1:p.Leu1000=
XM_011526024.1:c.2392T>C (ATP8B1)	XP_011524326.1:p.Leu798=
NM_005603.6:c.3112T>C (ATP8B1)	NP_005594.2:p.Leu1038=
XM_006722481.4:c.3112T>C (ATP8B1)	XP_006722544.1:p.Leu1038=
XM_011526023.3:c.2998T>C (ATP8B1)	XP_011524325.1:p.Leu1000=
NM_001374385.1:c.3112T>C (ATP8B1) MANE Select	NP_001361314.1:p.Leu1038=
NM_001374386.1:c.2962T>C (ATP8B1)	NP_001361315.1:p.Leu988=
NR_164148.1:n.682+10581A>G (ATP8B1-AS1)