Canonical Allele Identifier: CA36036656

Gene: PKP1

Linked Data

• dbSNP Id: rs1006759897
• gnomAD v2: 1-201286802-A-G
• gnomAD v4: 1-201317674-A-G
• MyVariant Identifiers: chr1:g.201286802A>G (hg19) ; chr1:g.201317674A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317674A>G , CM000663.2:g.201317674A>G	GRCh38
NC_000001.10:g.201286802A>G , CM000663.1:g.201286802A>G	GRCh37
NC_000001.9:g.199553425A>G	NCBI36
NG_023337.1:g.39223A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.949A>G MANE Select	ENSP00000356293.4:p.Arg317Gly
ENST00000263946.7:c.949A>G	ENSP00000263946.3:p.Arg317Gly
ENST00000352845.3:c.949A>G	ENSP00000295597.3:p.Arg317Gly
ENST00000367324.7:c.949A>G	ENSP00000356293.3:p.Arg317Gly
ENST00000475988.1:n.291A>G
ENST00000622031.4:c.946A>G	ENSP00000482213.1:p.Arg316Gly
NM_000299.3:c.949A>G	NP_000290.2:p.Arg317Gly
NM_001005337.2:c.949A>G	NP_001005337.1:p.Arg317Gly
NM_001005337.3:c.949A>G MANE Select	NP_001005337.1:p.Arg317Gly
NM_000299.4:c.949A>G	NP_000290.2:p.Arg317Gly