Canonical Allele Identifier: CA1324244
Gene: PKP1 HGNC NCBI

Linked Data

dbSNP Id: rs529199336

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317647G>C , CM000663.2:g.201317647G>C GRCh38
NC_000001.10:g.201286775G>C , CM000663.1:g.201286775G>C GRCh37
NC_000001.9:g.199553398G>C NCBI36
NG_023337.1:g.39196G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.922G>C MANE Select ENSP00000356293.4:p.Ala308Pro
ENST00000263946.7:c.922G>C ENSP00000263946.3:p.Ala308Pro
ENST00000352845.3:c.922G>C ENSP00000295597.3:p.Ala308Pro
ENST00000367324.7:c.922G>C ENSP00000356293.3:p.Ala308Pro
ENST00000475988.1:n.264G>C
ENST00000622031.4:c.919G>C ENSP00000482213.1:p.Ala307Pro
NM_000299.3:c.922G>C NP_000290.2:p.Ala308Pro
NM_001005337.2:c.922G>C NP_001005337.1:p.Ala308Pro
NM_001005337.3:c.922G>C MANE Select NP_001005337.1:p.Ala308Pro
NM_000299.4:c.922G>C NP_000290.2:p.Ala308Pro