Canonical Allele Identifier: CA344177877

Gene: PKP1

Linked Data

• ClinVar Variation Id: 2229318
• ClinVar RCV Id: RCV002692659
• MyVariant Identifiers: chr1:g.201286700G>A (hg19) ; chr1:g.201317572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317572G>A , CM000663.2:g.201317572G>A	GRCh38
NC_000001.10:g.201286700G>A , CM000663.1:g.201286700G>A	GRCh37
NC_000001.9:g.199553323G>A	NCBI36
NG_023337.1:g.39121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.847G>A MANE Select	ENSP00000356293.4:p.Val283Ile
ENST00000263946.7:c.847G>A	ENSP00000263946.3:p.Val283Ile
ENST00000352845.3:c.847G>A	ENSP00000295597.3:p.Val283Ile
ENST00000367324.7:c.847G>A	ENSP00000356293.3:p.Val283Ile
ENST00000475988.1:n.189G>A
ENST00000622031.4:c.844G>A	ENSP00000482213.1:p.Val282Ile
NM_000299.3:c.847G>A	NP_000290.2:p.Val283Ile
NM_001005337.2:c.847G>A	NP_001005337.1:p.Val283Ile
NM_001005337.3:c.847G>A MANE Select	NP_001005337.1:p.Val283Ile
NM_000299.4:c.847G>A	NP_000290.2:p.Val283Ile