Canonical Allele Identifier: CA344178121
Gene: PKP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317612T>C , CM000663.2:g.201317612T>C GRCh38
NC_000001.10:g.201286740T>C , CM000663.1:g.201286740T>C GRCh37
NC_000001.9:g.199553363T>C NCBI36
NG_023337.1:g.39161T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.887T>C MANE Select ENSP00000356293.4:p.Leu296Pro
ENST00000263946.7:c.887T>C ENSP00000263946.3:p.Leu296Pro
ENST00000352845.3:c.887T>C ENSP00000295597.3:p.Leu296Pro
ENST00000367324.7:c.887T>C ENSP00000356293.3:p.Leu296Pro
ENST00000475988.1:n.229T>C
ENST00000622031.4:c.884T>C ENSP00000482213.1:p.Leu295Pro
NM_000299.3:c.887T>C NP_000290.2:p.Leu296Pro
NM_001005337.2:c.887T>C NP_001005337.1:p.Leu296Pro
NM_001005337.3:c.887T>C MANE Select NP_001005337.1:p.Leu296Pro
NM_000299.4:c.887T>C NP_000290.2:p.Leu296Pro