Canonical Allele Identifier: CA402541643
Gene: ATP8B1 HGNC NCBI
ATP8B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57650449A>G , CM000680.2:g.57650449A>G GRCh38
NC_000018.9:g.55317681A>G , CM000680.1:g.55317681A>G GRCh37
NC_000018.8:g.53468679A>G NCBI36
NG_007148.2:g.157647T>C
NG_007148.3:g.158374T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642462.1:c.*681T>C (ATP8B1) ENSP00000494712.1:n.*681T>C
ENST00000648039.1:c.*681T>C (ATP8B1) ENSP00000497863.1:n.*681T>C
ENST00000648908.2:c.3449T>C (ATP8B1) MANE Select ENSP00000497896.1:p.Ile1150Thr
ENST00000283684.8:c.3449T>C (ATP8B1) ENSP00000283684.4:p.Ile1150Thr
ENST00000536015.5:c.3449T>C (ATP8B1) ENSP00000445359.1:p.Ile1150Thr
NM_001242804.1:c.139+8397A>G (ATP8B1-AS1) NP_001229733.1:n.139+8397A>G
NM_005603.4:c.3449T>C (ATP8B1) NP_005594.1:p.Ile1150Thr
XM_006722481.2:c.3449T>C (ATP8B1) XP_006722544.1:p.Ile1150Thr
XM_011526020.1:c.3449T>C (ATP8B1) XP_011524322.1:p.Ile1150Thr
XM_011526021.1:c.3449T>C (ATP8B1) XP_011524323.1:p.Ile1150Thr
XM_011526022.1:c.3449T>C (ATP8B1) XP_011524324.1:p.Ile1150Thr
XM_011526023.1:c.3335T>C (ATP8B1) XP_011524325.1:p.Ile1112Thr
XM_011526024.1:c.2729T>C (ATP8B1) XP_011524326.1:p.Ile910Thr
NM_005603.6:c.3449T>C (ATP8B1) NP_005594.2:p.Ile1150Thr
XM_006722481.4:c.3449T>C (ATP8B1) XP_006722544.1:p.Ile1150Thr
XM_011526023.3:c.3335T>C (ATP8B1) XP_011524325.1:p.Ile1112Thr
NM_001374385.1:c.3449T>C (ATP8B1) MANE Select NP_001361314.1:p.Ile1150Thr
NM_001374386.1:c.3299T>C (ATP8B1) NP_001361315.1:p.Ile1100Thr
NR_164148.1:n.682+8397A>G (ATP8B1-AS1)