Canonical Allele Identifier: CA2649779873
Gene: PKP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317556A>G , CM000663.2:g.201317556A>G GRCh38
NC_000001.10:g.201286684A>G , CM000663.1:g.201286684A>G GRCh37
NC_000001.9:g.199553307A>G NCBI36
NG_023337.1:g.39105A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367324.8:c.847-16A>G MANE Select ENSP00000356293.4:n.847-16A>G
ENST00000263946.7:c.847-16A>G ENSP00000263946.3:n.847-16A>G
ENST00000352845.3:c.847-16A>G ENSP00000295597.3:n.847-16A>G
ENST00000367324.7:c.847-16A>G ENSP00000356293.3:n.847-16A>G
ENST00000475988.1:n.189-16A>G
ENST00000622031.4:c.844-16A>G ENSP00000482213.1:n.844-16A>G
NM_000299.3:c.847-16A>G NP_000290.2:n.847-16A>G
NM_001005337.2:c.847-16A>G NP_001005337.1:n.847-16A>G
NM_001005337.3:c.847-16A>G MANE Select NP_001005337.1:n.847-16A>G
NM_000299.4:c.847-16A>G NP_000290.2:n.847-16A>G