Canonical Allele Identifier: CA402555904

Gene: ATP8B1

Linked Data

• MyVariant Identifiers: chr18:g.55336556G>T (hg19) ; chr18:g.57669324G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57669324G>T , CM000680.2:g.57669324G>T	GRCh38
NC_000018.9:g.55336556G>T , CM000680.1:g.55336556G>T	GRCh37
NC_000018.8:g.53487554G>T	NCBI36
NG_007148.2:g.138772C>A
NG_007148.3:g.139499C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642462.1:c.2091C>A	ENSP00000494712.1:p.Asp697Glu
ENST00000648039.1:c.2091C>A	ENSP00000497863.1:p.Asp697Glu
ENST00000648908.2:c.2091C>A MANE Select	ENSP00000497896.1:p.Asp697Glu
ENST00000283684.8:c.2091C>A	ENSP00000283684.4:p.Asp697Glu
ENST00000536015.5:c.2091C>A	ENSP00000445359.1:p.Asp697Glu
NM_005603.4:c.2091C>A	NP_005594.1:p.Asp697Glu
XM_006722481.2:c.2091C>A	XP_006722544.1:p.Asp697Glu
XM_011526020.1:c.2091C>A	XP_011524322.1:p.Asp697Glu
XM_011526021.1:c.2091C>A	XP_011524323.1:p.Asp697Glu
XM_011526022.1:c.2091C>A	XP_011524324.1:p.Asp697Glu
XM_011526023.1:c.1977C>A	XP_011524325.1:p.Asp659Glu
XM_011526024.1:c.1371C>A	XP_011524326.1:p.Asp457Glu
NM_005603.6:c.2091C>A	NP_005594.2:p.Asp697Glu
XM_006722481.4:c.2091C>A	XP_006722544.1:p.Asp697Glu
XM_011526023.3:c.1977C>A	XP_011524325.1:p.Asp659Glu
NM_001374385.1:c.2091C>A MANE Select	NP_001361314.1:p.Asp697Glu
NM_001374386.1:c.1941C>A	NP_001361315.1:p.Asp647Glu