Canonical Allele Identifier: CA1219691430
Gene: PKP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201318003T= , CM000663.2:g.201318003T= GRCh38
NC_000001.10:g.201287131T= , CM000663.1:g.201287131T= GRCh37
NC_000001.9:g.199553754T= NCBI36
NG_023337.1:g.39552T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.1054+224T= MANE Select ENSP00000356293.4:n.1054+224T=
ENST00000263946.7:c.1054+224T= ENSP00000263946.3:n.1054+224T=
ENST00000352845.3:c.1054+224T= ENSP00000295597.3:n.1054+224T=
ENST00000367324.7:c.1054+224T= ENSP00000356293.3:n.1054+224T=
ENST00000475988.1:n.396+224T=
ENST00000622031.4:c.1051+224T= ENSP00000482213.1:n.1051+224T=
NM_000299.3:c.1054+224T= NP_000290.2:n.1054+224T=
NM_001005337.2:c.1054+224T= NP_001005337.1:n.1054+224T=
NM_001005337.3:c.1054+224T= MANE Select NP_001005337.1:n.1054+224T=
NM_000299.4:c.1054+224T= NP_000290.2:n.1054+224T=