Canonical Allele Identifier: CA344178330

Gene: PKP1

Linked Data

• dbSNP Id: rs1412701858
• gnomAD v3: 1-201317659-C-T
• gnomAD v4: 1-201317659-C-T
• MyVariant Identifiers: chr1:g.201286787C>T (hg19) ; chr1:g.201317659C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317659C>T , CM000663.2:g.201317659C>T	GRCh38
NC_000001.10:g.201286787C>T , CM000663.1:g.201286787C>T	GRCh37
NC_000001.9:g.199553410C>T	NCBI36
NG_023337.1:g.39208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.934C>T MANE Select	ENSP00000356293.4:p.Arg312Cys
ENST00000263946.7:c.934C>T	ENSP00000263946.3:p.Arg312Cys
ENST00000352845.3:c.934C>T	ENSP00000295597.3:p.Arg312Cys
ENST00000367324.7:c.934C>T	ENSP00000356293.3:p.Arg312Cys
ENST00000475988.1:n.276C>T
ENST00000622031.4:c.931C>T	ENSP00000482213.1:p.Arg311Cys
NM_000299.3:c.934C>T	NP_000290.2:p.Arg312Cys
NM_001005337.2:c.934C>T	NP_001005337.1:p.Arg312Cys
NM_001005337.3:c.934C>T MANE Select	NP_001005337.1:p.Arg312Cys
NM_000299.4:c.934C>T	NP_000290.2:p.Arg312Cys