Canonical Allele Identifier: CA118648
Gene: ATP8B1 HGNC NCBI
ATP8B1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7272
ClinVar RCV Id: RCV000007695
dbSNP Id: rs121909103

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57661282G>A , CM000680.2:g.57661282G>A GRCh38
NC_000018.9:g.55328514G>A , CM000680.1:g.55328514G>A GRCh37
NC_000018.8:g.53479512G>A NCBI36
NG_007148.2:g.146814C>T
NG_007148.3:g.147541C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642462.1:c.2599C>T (ATP8B1) ENSP00000494712.1:p.Arg867Cys
ENST00000648039.1:c.2599C>T (ATP8B1) ENSP00000497863.1:p.Arg867Cys
ENST00000648908.2:c.2599C>T (ATP8B1) MANE Select ENSP00000497896.1:p.Arg867Cys
ENST00000283684.8:c.2599C>T (ATP8B1) ENSP00000283684.4:p.Arg867Cys
ENST00000536015.5:c.2599C>T (ATP8B1) ENSP00000445359.1:p.Arg867Cys
NM_001242804.1:c.140-6724G>A (ATP8B1-AS1) NP_001229733.1:n.140-6724G>A
NM_005603.4:c.2599C>T (ATP8B1) NP_005594.1:p.Arg867Cys
XM_006722481.2:c.2599C>T (ATP8B1) XP_006722544.1:p.Arg867Cys
XM_011526020.1:c.2599C>T (ATP8B1) XP_011524322.1:p.Arg867Cys
XM_011526021.1:c.2599C>T (ATP8B1) XP_011524323.1:p.Arg867Cys
XM_011526022.1:c.2599C>T (ATP8B1) XP_011524324.1:p.Arg867Cys
XM_011526023.1:c.2485C>T (ATP8B1) XP_011524325.1:p.Arg829Cys
XM_011526024.1:c.1879C>T (ATP8B1) XP_011524326.1:p.Arg627Cys
NM_005603.6:c.2599C>T (ATP8B1) NP_005594.2:p.Arg867Cys
XM_006722481.4:c.2599C>T (ATP8B1) XP_006722544.1:p.Arg867Cys
XM_011526023.3:c.2485C>T (ATP8B1) XP_011524325.1:p.Arg829Cys
NM_001374385.1:c.2599C>T (ATP8B1) MANE Select NP_001361314.1:p.Arg867Cys
NM_001374386.1:c.2449C>T (ATP8B1) NP_001361315.1:p.Arg817Cys
NR_164148.1:n.683-6724G>A (ATP8B1-AS1)