Canonical Allele Identifier: CA16559020
Community Standard Title: NM_001374385.1(ATP8B1):c.2931+59T>A
Gene: ATP8B1 HGNC NCBI
ATP8B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57655135A>T , CM000680.2:g.57655135A>T GRCh38
NC_000018.9:g.55322367A>T , CM000680.1:g.55322367A>T GRCh37
NC_000018.8:g.53473365A>T NCBI36
NG_007148.2:g.152961T>A
NG_007148.3:g.153688T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001374385.1:c.2931+59T>A (ATP8B1) MANE Select NP_001361314.1:n.2931+59T>A
ENST00000648908.2:c.2931+59T>A (ATP8B1) MANE Select ENSP00000497896.1:n.2931+59T>A
NM_001242804.1:c.140-12871A>T (ATP8B1-AS1) NP_001229733.1:n.140-12871A>T
NM_001374386.1:c.2781+59T>A (ATP8B1) NP_001361315.1:n.2781+59T>A
NM_005603.4:c.2931+59T>A (ATP8B1) NP_005594.1:n.2931+59T>A
NM_005603.6:c.2931+59T>A (ATP8B1) NP_005594.2:n.2931+59T>A
NR_164148.1:n.683-12871A>T (ATP8B1-AS1)
ENST00000283684.8:c.2931+59T>A (ATP8B1) ENSP00000283684.4:n.2931+59T>A
ENST00000536015.5:c.2931+59T>A (ATP8B1) ENSP00000445359.1:n.2931+59T>A
ENST00000642462.1:c.*163+59T>A (ATP8B1) ENSP00000494712.1:n.*163+59T>A
ENST00000648039.1:c.*163+59T>A (ATP8B1) ENSP00000497863.1:n.*163+59T>A
XM_006722481.2:c.2931+59T>A (ATP8B1) XP_006722544.1:n.2931+59T>A
XM_006722481.4:c.2931+59T>A (ATP8B1) XP_006722544.1:n.2931+59T>A
XM_011526020.1:c.2931+59T>A (ATP8B1) XP_011524322.1:n.2931+59T>A
XM_011526021.1:c.2931+59T>A (ATP8B1) XP_011524323.1:n.2931+59T>A
XM_011526022.1:c.2931+59T>A (ATP8B1) XP_011524324.1:n.2931+59T>A
XM_011526023.1:c.2817+59T>A (ATP8B1) XP_011524325.1:n.2817+59T>A
XM_011526023.3:c.2817+59T>A (ATP8B1) XP_011524325.1:n.2817+59T>A
XM_011526024.1:c.2211+59T>A (ATP8B1) XP_011524326.1:n.2211+59T>A