Canonical Allele Identifier: CA1324242

Gene: PKP1

Linked Data

• dbSNP Id: rs536481505
• ExAC: 1:201286773 C / T
• gnomAD v2: 1-201286773-C-T
• gnomAD v3: 1-201317645-C-T
• gnomAD v4: 1-201317645-C-T
• MyVariant Identifiers: chr1:g.201286773C>T (hg19) ; chr1:g.201317645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317645C>T , CM000663.2:g.201317645C>T	GRCh38
NC_000001.10:g.201286773C>T , CM000663.1:g.201286773C>T	GRCh37
NC_000001.9:g.199553396C>T	NCBI36
NG_023337.1:g.39194C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367324.8:c.920C>T MANE Select	ENSP00000356293.4:p.Ala307Val
ENST00000263946.7:c.920C>T	ENSP00000263946.3:p.Ala307Val
ENST00000352845.3:c.920C>T	ENSP00000295597.3:p.Ala307Val
ENST00000367324.7:c.920C>T	ENSP00000356293.3:p.Ala307Val
ENST00000475988.1:n.262C>T
ENST00000622031.4:c.917C>T	ENSP00000482213.1:p.Ala306Val
NM_000299.3:c.920C>T	NP_000290.2:p.Ala307Val
NM_001005337.2:c.920C>T	NP_001005337.1:p.Ala307Val
NM_001005337.3:c.920C>T MANE Select	NP_001005337.1:p.Ala307Val
NM_000299.4:c.920C>T	NP_000290.2:p.Ala307Val