Canonical Allele Identifier: CA344178469

Gene: PKP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.968T>A MANE Select	ENSP00000356293.4:p.Leu323Gln
ENST00000263946.7:c.968T>A	ENSP00000263946.3:p.Leu323Gln
ENST00000352845.3:c.968T>A	ENSP00000295597.3:p.Leu323Gln
ENST00000367324.7:c.968T>A	ENSP00000356293.3:p.Leu323Gln
ENST00000475988.1:n.310T>A
ENST00000622031.4:c.965T>A	ENSP00000482213.1:p.Leu322Gln
NM_000299.3:c.968T>A	NP_000290.2:p.Leu323Gln
NM_001005337.2:c.968T>A	NP_001005337.1:p.Leu323Gln
NM_001005337.3:c.968T>A MANE Select	NP_001005337.1:p.Leu323Gln
NM_000299.4:c.968T>A	NP_000290.2:p.Leu323Gln