Canonical Allele Identifier: CA8974030
Community Standard Title: NM_001374385.1(ATP8B1):c.3318C>T (p.Ser1106=)
Gene: ATP8B1 HGNC NCBI
ATP8B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57652116G>A , CM000680.2:g.57652116G>A GRCh38
NC_000018.9:g.55319348G>A , CM000680.1:g.55319348G>A GRCh37
NC_000018.8:g.53470346G>A NCBI36
NG_007148.2:g.155980C>T
NG_007148.3:g.156707C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001374385.1:c.3318C>T (ATP8B1) MANE Select NP_001361314.1:p.Ser1106=
ENST00000648908.2:c.3318C>T (ATP8B1) MANE Select ENSP00000497896.1:p.Ser1106=
NM_001242804.1:c.139+10064G>A (ATP8B1-AS1) NP_001229733.1:n.139+10064G>A
NM_001374386.1:c.3168C>T (ATP8B1) NP_001361315.1:p.Ser1056=
NM_005603.4:c.3318C>T (ATP8B1) NP_005594.1:p.Ser1106=
NM_005603.6:c.3318C>T (ATP8B1) NP_005594.2:p.Ser1106=
NR_164148.1:n.682+10064G>A (ATP8B1-AS1)
ENST00000283684.8:c.3318C>T (ATP8B1) ENSP00000283684.4:p.Ser1106=
ENST00000536015.5:c.3318C>T (ATP8B1) ENSP00000445359.1:p.Ser1106=
ENST00000642462.1:c.*550C>T (ATP8B1) ENSP00000494712.1:n.*550C>T
ENST00000648039.1:c.*550C>T (ATP8B1) ENSP00000497863.1:n.*550C>T
XM_006722481.2:c.3318C>T (ATP8B1) XP_006722544.1:p.Ser1106=
XM_006722481.4:c.3318C>T (ATP8B1) XP_006722544.1:p.Ser1106=
XM_011526020.1:c.3318C>T (ATP8B1) XP_011524322.1:p.Ser1106=
XM_011526021.1:c.3318C>T (ATP8B1) XP_011524323.1:p.Ser1106=
XM_011526022.1:c.3318C>T (ATP8B1) XP_011524324.1:p.Ser1106=
XM_011526023.1:c.3204C>T (ATP8B1) XP_011524325.1:p.Ser1068=
XM_011526023.3:c.3204C>T (ATP8B1) XP_011524325.1:p.Ser1068=
XM_011526024.1:c.2598C>T (ATP8B1) XP_011524326.1:p.Ser866=