Canonical Allele Identifier: CA1011184601
Gene: PKP1 HGNC NCBI

Linked Data

dbSNP Id: rs1656813774
gnomAD v3: 1-201317948-A-G
gnomAD v4: 1-201317948-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317948A>G , CM000663.2:g.201317948A>G GRCh38
NC_000001.10:g.201287076A>G , CM000663.1:g.201287076A>G GRCh37
NC_000001.9:g.199553699A>G NCBI36
NG_023337.1:g.39497A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.1054+169A>G MANE Select ENSP00000356293.4:n.1054+169A>G
ENST00000263946.7:c.1054+169A>G ENSP00000263946.3:n.1054+169A>G
ENST00000352845.3:c.1054+169A>G ENSP00000295597.3:n.1054+169A>G
ENST00000367324.7:c.1054+169A>G ENSP00000356293.3:n.1054+169A>G
ENST00000475988.1:n.396+169A>G
ENST00000622031.4:c.1051+169A>G ENSP00000482213.1:n.1051+169A>G
NM_000299.3:c.1054+169A>G NP_000290.2:n.1054+169A>G
NM_001005337.2:c.1054+169A>G NP_001005337.1:n.1054+169A>G
NM_001005337.3:c.1054+169A>G MANE Select NP_001005337.1:n.1054+169A>G
NM_000299.4:c.1054+169A>G NP_000290.2:n.1054+169A>G
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