Canonical Allele Identifier: CA1219691377
Gene: PKP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317888C= , CM000663.2:g.201317888C= GRCh38
NC_000001.10:g.201287016C= , CM000663.1:g.201287016C= GRCh37
NC_000001.9:g.199553639C= NCBI36
NG_023337.1:g.39437C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.1054+109C= MANE Select ENSP00000356293.4:n.1054+109C=
ENST00000263946.7:c.1054+109C= ENSP00000263946.3:n.1054+109C=
ENST00000352845.3:c.1054+109C= ENSP00000295597.3:n.1054+109C=
ENST00000367324.7:c.1054+109C= ENSP00000356293.3:n.1054+109C=
ENST00000475988.1:n.396+109C=
ENST00000622031.4:c.1051+109C= ENSP00000482213.1:n.1051+109C=
NM_000299.3:c.1054+109C= NP_000290.2:n.1054+109C=
NM_001005337.2:c.1054+109C= NP_001005337.1:n.1054+109C=
NM_001005337.3:c.1054+109C= MANE Select NP_001005337.1:n.1054+109C=
NM_000299.4:c.1054+109C= NP_000290.2:n.1054+109C=
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