Canonical Allele Identifier: CA402561252
Gene: ATP8B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57674933G>C , CM000680.2:g.57674933G>C GRCh38
NC_000018.9:g.55342165G>C , CM000680.1:g.55342165G>C GRCh37
NC_000018.8:g.53493163G>C NCBI36
NG_007148.2:g.133163C>G
NG_007148.3:g.133890C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642462.1:c.1720C>G ENSP00000494712.1:p.Gln574Glu
ENST00000648039.1:c.1720C>G ENSP00000497863.1:p.Gln574Glu
ENST00000648467.1:c.1585C>G
ENST00000648908.2:c.1720C>G MANE Select ENSP00000497896.1:p.Gln574Glu
ENST00000283684.8:c.1720C>G ENSP00000283684.4:p.Gln574Glu
ENST00000536015.5:c.1720C>G ENSP00000445359.1:p.Gln574Glu
NM_005603.4:c.1720C>G NP_005594.1:p.Gln574Glu
XM_006722481.2:c.1720C>G XP_006722544.1:p.Gln574Glu
XM_011526020.1:c.1720C>G XP_011524322.1:p.Gln574Glu
XM_011526021.1:c.1720C>G XP_011524323.1:p.Gln574Glu
XM_011526022.1:c.1720C>G XP_011524324.1:p.Gln574Glu
XM_011526023.1:c.1606C>G XP_011524325.1:p.Gln536Glu
XM_011526024.1:c.1000C>G XP_011524326.1:p.Gln334Glu
NM_005603.6:c.1720C>G NP_005594.2:p.Gln574Glu
XM_006722481.4:c.1720C>G XP_006722544.1:p.Gln574Glu
XM_011526023.3:c.1606C>G XP_011524325.1:p.Gln536Glu
NM_001374385.1:c.1720C>G MANE Select NP_001361314.1:p.Gln574Glu
NM_001374386.1:c.1570C>G NP_001361315.1:p.Gln524Glu