Canonical Allele Identifier: CA8974198
Community Standard Title: NM_001374385.1(ATP8B1):c.2707+9T>C
Gene: ATP8B1 HGNC NCBI
ATP8B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57661165A>G , CM000680.2:g.57661165A>G GRCh38
NC_000018.9:g.55328397A>G , CM000680.1:g.55328397A>G GRCh37
NC_000018.8:g.53479395A>G NCBI36
NG_007148.2:g.146931T>C
NG_007148.3:g.147658T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001374385.1:c.2707+9T>C (ATP8B1) MANE Select NP_001361314.1:n.2707+9T>C
ENST00000648908.2:c.2707+9T>C (ATP8B1) MANE Select ENSP00000497896.1:n.2707+9T>C
NM_001242804.1:c.140-6841A>G (ATP8B1-AS1) NP_001229733.1:n.140-6841A>G
NM_001374386.1:c.2557+9T>C (ATP8B1) NP_001361315.1:n.2557+9T>C
NM_005603.4:c.2707+9T>C (ATP8B1) NP_005594.1:n.2707+9T>C
NM_005603.6:c.2707+9T>C (ATP8B1) NP_005594.2:n.2707+9T>C
NR_164148.1:n.683-6841A>G (ATP8B1-AS1)
ENST00000283684.8:c.2707+9T>C (ATP8B1) ENSP00000283684.4:n.2707+9T>C
ENST00000536015.5:c.2707+9T>C (ATP8B1) ENSP00000445359.1:n.2707+9T>C
ENST00000642462.1:c.2707+9T>C (ATP8B1) ENSP00000494712.1:n.2707+9T>C
ENST00000648039.1:c.2707+9T>C (ATP8B1) ENSP00000497863.1:n.2707+9T>C
XM_006722481.2:c.2707+9T>C (ATP8B1) XP_006722544.1:n.2707+9T>C
XM_006722481.4:c.2707+9T>C (ATP8B1) XP_006722544.1:n.2707+9T>C
XM_011526020.1:c.2707+9T>C (ATP8B1) XP_011524322.1:n.2707+9T>C
XM_011526021.1:c.2707+9T>C (ATP8B1) XP_011524323.1:n.2707+9T>C
XM_011526022.1:c.2707+9T>C (ATP8B1) XP_011524324.1:n.2707+9T>C
XM_011526023.1:c.2593+9T>C (ATP8B1) XP_011524325.1:n.2593+9T>C
XM_011526023.3:c.2593+9T>C (ATP8B1) XP_011524325.1:n.2593+9T>C
XM_011526024.1:c.1987+9T>C (ATP8B1) XP_011524326.1:n.1987+9T>C