Canonical Allele Identifier: CA658799075
Community Standard Title: NM_001374385.1(ATP8B1):c.3454G= (p.Ala1152=)
Gene: ATP8B1 HGNC NCBI
ATP8B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57650444C= , CM000680.2:g.57650444C= GRCh38
NC_000018.9:g.55317676C= , CM000680.1:g.55317676C= GRCh37
NC_000018.8:g.53468674C= NCBI36
NG_007148.3:g.158379G=

Transcript Alleles

HGVS Amino-acid Change
NM_001374385.1:c.3454G= (ATP8B1) MANE Select NP_001361314.1:p.Ala1152=
ENST00000648908.2:c.3454G= (ATP8B1) MANE Select ENSP00000497896.1:p.Ala1152=
NM_001242804.1:c.139+8392C= (ATP8B1-AS1) NP_001229733.1:n.139+8392C=
NM_001374386.1:c.3304G= (ATP8B1) NP_001361315.1:p.Ala1102=
NM_005603.6:c.3454G= (ATP8B1) NP_005594.2:p.Ala1152=
NR_164148.1:n.682+8392C= (ATP8B1-AS1)
ENST00000283684.8:c.3454G= (ATP8B1) ENSP00000283684.4:p.Ala1152=
ENST00000536015.5:c.3454G= (ATP8B1) ENSP00000445359.1:p.Ala1152=
ENST00000642462.1:c.*686G= (ATP8B1) ENSP00000494712.1:n.*686G=
ENST00000648039.1:c.*686G= (ATP8B1) ENSP00000497863.1:n.*686G=
XM_006722481.2:c.3454G= (ATP8B1) XP_006722544.1:p.Ala1152=
XM_006722481.4:c.3454G= (ATP8B1) XP_006722544.1:p.Ala1152=
XM_011526020.1:c.3454G= (ATP8B1) XP_011524322.1:p.Ala1152=
XM_011526021.1:c.3454G= (ATP8B1) XP_011524323.1:p.Ala1152=
XM_011526022.1:c.3454G= (ATP8B1) XP_011524324.1:p.Ala1152=
XM_011526023.1:c.3340G= (ATP8B1) XP_011524325.1:p.Ala1114=
XM_011526023.3:c.3340G= (ATP8B1) XP_011524325.1:p.Ala1114=
XM_011526024.1:c.2734G= (ATP8B1) XP_011524326.1:p.Ala912=