Canonical Allele Identifier: CA1219691250
Gene: PKP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317598G= , CM000663.2:g.201317598G= GRCh38
NC_000001.10:g.201286726G= , CM000663.1:g.201286726G= GRCh37
NC_000001.9:g.199553349G= NCBI36
NG_023337.1:g.39147G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.873G= MANE Select ENSP00000356293.4:p.Lys291=
ENST00000263946.7:c.873G= ENSP00000263946.3:p.Lys291=
ENST00000352845.3:c.873G= ENSP00000295597.3:p.Lys291=
ENST00000367324.7:c.873G= ENSP00000356293.3:p.Lys291=
ENST00000475988.1:n.215G=
ENST00000622031.4:c.870G= ENSP00000482213.1:p.Lys290=
NM_000299.3:c.873G= NP_000290.2:p.Lys291=
NM_001005337.2:c.873G= NP_001005337.1:p.Lys291=
NM_001005337.3:c.873G= MANE Select NP_001005337.1:p.Lys291=
NM_000299.4:c.873G= NP_000290.2:p.Lys291=