Canonical Allele Identifier: CA254131
Gene: ATP8B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7264
ClinVar RCV Id: RCV000007686
dbSNP Id: rs121909099

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57695248A>G , CM000680.2:g.57695248A>G GRCh38
NC_000018.9:g.55362480A>G , CM000680.1:g.55362480A>G GRCh37
NC_000018.8:g.53513478A>G NCBI36
NG_007148.2:g.112848T>C
NG_007148.3:g.113575T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642462.1:c.863T>C ENSP00000494712.1:p.Leu288Ser
ENST00000648039.1:c.863T>C ENSP00000497863.1:p.Leu288Ser
ENST00000648467.1:c.696T>C
ENST00000648908.2:c.863T>C MANE Select ENSP00000497896.1:p.Leu288Ser
ENST00000283684.8:c.863T>C ENSP00000283684.4:p.Leu288Ser
ENST00000536015.5:c.863T>C ENSP00000445359.1:p.Leu288Ser
NM_005603.4:c.863T>C NP_005594.1:p.Leu288Ser
XM_006722481.2:c.863T>C XP_006722544.1:p.Leu288Ser
XM_011526020.1:c.863T>C XP_011524322.1:p.Leu288Ser
XM_011526021.1:c.863T>C XP_011524323.1:p.Leu288Ser
XM_011526022.1:c.863T>C XP_011524324.1:p.Leu288Ser
XM_011526023.1:c.749T>C XP_011524325.1:p.Leu250Ser
XM_011526024.1:c.143T>C XP_011524326.1:p.Leu48Ser
XR_935525.1:n.32-697A>G
XR_935526.1:n.32-697A>G
NM_005603.6:c.863T>C NP_005594.2:p.Leu288Ser
XM_006722481.4:c.863T>C XP_006722544.1:p.Leu288Ser
XM_011526023.3:c.749T>C XP_011524325.1:p.Leu250Ser
NM_001374385.1:c.863T>C MANE Select NP_001361314.1:p.Leu288Ser
NM_001374386.1:c.713T>C NP_001361315.1:p.Leu238Ser