Canonical Allele Identifier: CA344178250
Gene: PKP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.201286765G>C (hg19) chr1:g.201317637G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317637G>C , CM000663.2:g.201317637G>C GRCh38
NC_000001.10:g.201286765G>C , CM000663.1:g.201286765G>C GRCh37
NC_000001.9:g.199553388G>C NCBI36
NG_023337.1:g.39186G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367324.8:c.912G>C MANE Select ENSP00000356293.4:p.Gln304His
ENST00000263946.7:c.912G>C ENSP00000263946.3:p.Gln304His
ENST00000352845.3:c.912G>C ENSP00000295597.3:p.Gln304His
ENST00000367324.7:c.912G>C ENSP00000356293.3:p.Gln304His
ENST00000475988.1:n.254G>C
ENST00000622031.4:c.909G>C ENSP00000482213.1:p.Gln303His
NM_000299.3:c.912G>C NP_000290.2:p.Gln304His
NM_001005337.2:c.912G>C NP_001005337.1:p.Gln304His
NM_001005337.3:c.912G>C MANE Select NP_001005337.1:p.Gln304His
NM_000299.4:c.912G>C NP_000290.2:p.Gln304His
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