Canonical Allele Identifier: CA1219691253
Gene: PKP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317604G= , CM000663.2:g.201317604G= GRCh38
NC_000001.10:g.201286732G= , CM000663.1:g.201286732G= GRCh37
NC_000001.9:g.199553355G= NCBI36
NG_023337.1:g.39153G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.879G= MANE Select ENSP00000356293.4:p.Val293=
ENST00000263946.7:c.879G= ENSP00000263946.3:p.Val293=
ENST00000352845.3:c.879G= ENSP00000295597.3:p.Val293=
ENST00000367324.7:c.879G= ENSP00000356293.3:p.Val293=
ENST00000475988.1:n.221G=
ENST00000622031.4:c.876G= ENSP00000482213.1:p.Val292=
NM_000299.3:c.879G= NP_000290.2:p.Val293=
NM_001005337.2:c.879G= NP_001005337.1:p.Val293=
NM_001005337.3:c.879G= MANE Select NP_001005337.1:p.Val293=
NM_000299.4:c.879G= NP_000290.2:p.Val293=