Canonical Allele Identifier: CA344178472

Gene: PKP1

Linked Data

• MyVariant Identifiers: chr1:g.201286821T>G (hg19) ; chr1:g.201317693T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317693T>G , CM000663.2:g.201317693T>G	GRCh38
NC_000001.10:g.201286821T>G , CM000663.1:g.201286821T>G	GRCh37
NC_000001.9:g.199553444T>G	NCBI36
NG_023337.1:g.39242T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.968T>G MANE Select	ENSP00000356293.4:p.Leu323Arg
ENST00000263946.7:c.968T>G	ENSP00000263946.3:p.Leu323Arg
ENST00000352845.3:c.968T>G	ENSP00000295597.3:p.Leu323Arg
ENST00000367324.7:c.968T>G	ENSP00000356293.3:p.Leu323Arg
ENST00000475988.1:n.310T>G
ENST00000622031.4:c.965T>G	ENSP00000482213.1:p.Leu322Arg
NM_000299.3:c.968T>G	NP_000290.2:p.Leu323Arg
NM_001005337.2:c.968T>G	NP_001005337.1:p.Leu323Arg
NM_001005337.3:c.968T>G MANE Select	NP_001005337.1:p.Leu323Arg
NM_000299.4:c.968T>G	NP_000290.2:p.Leu323Arg