Canonical Allele Identifier: CA344177943

Gene: PKP1

Linked Data

• dbSNP Id: rs1278309769
• gnomAD v3: 1-201317582-T-G
• gnomAD v4: 1-201317582-T-G
• MyVariant Identifiers: chr1:g.201286710T>G (hg19) ; chr1:g.201317582T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317582T>G , CM000663.2:g.201317582T>G	GRCh38
NC_000001.10:g.201286710T>G , CM000663.1:g.201286710T>G	GRCh37
NC_000001.9:g.199553333T>G	NCBI36
NG_023337.1:g.39131T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.857T>G MANE Select	ENSP00000356293.4:p.Leu286Arg
ENST00000263946.7:c.857T>G	ENSP00000263946.3:p.Leu286Arg
ENST00000352845.3:c.857T>G	ENSP00000295597.3:p.Leu286Arg
ENST00000367324.7:c.857T>G	ENSP00000356293.3:p.Leu286Arg
ENST00000475988.1:n.199T>G
ENST00000622031.4:c.854T>G	ENSP00000482213.1:p.Leu285Arg
NM_000299.3:c.857T>G	NP_000290.2:p.Leu286Arg
NM_001005337.2:c.857T>G	NP_001005337.1:p.Leu286Arg
NM_001005337.3:c.857T>G MANE Select	NP_001005337.1:p.Leu286Arg
NM_000299.4:c.857T>G	NP_000290.2:p.Leu286Arg