Canonical Allele Identifier: CA1219691258
Gene: PKP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317620C= , CM000663.2:g.201317620C= GRCh38
NC_000001.10:g.201286748C= , CM000663.1:g.201286748C= GRCh37
NC_000001.9:g.199553371C= NCBI36
NG_023337.1:g.39169C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.895C= MANE Select ENSP00000356293.4:p.Pro299=
ENST00000263946.7:c.895C= ENSP00000263946.3:p.Pro299=
ENST00000352845.3:c.895C= ENSP00000295597.3:p.Pro299=
ENST00000367324.7:c.895C= ENSP00000356293.3:p.Pro299=
ENST00000475988.1:n.237C=
ENST00000622031.4:c.892C= ENSP00000482213.1:p.Pro298=
NM_000299.3:c.895C= NP_000290.2:p.Pro299=
NM_001005337.2:c.895C= NP_001005337.1:p.Pro299=
NM_001005337.3:c.895C= MANE Select NP_001005337.1:p.Pro299=
NM_000299.4:c.895C= NP_000290.2:p.Pro299=