Canonical Allele Identifier: CA344178008

Gene: PKP1

Linked Data

• dbSNP Id: rs1386934403
• gnomAD v2: 1-201286722-G-T
• gnomAD v4: 1-201317594-G-T
• MyVariant Identifiers: chr1:g.201286722G>T (hg19) ; chr1:g.201317594G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317594G>T , CM000663.2:g.201317594G>T	GRCh38
NC_000001.10:g.201286722G>T , CM000663.1:g.201286722G>T	GRCh37
NC_000001.9:g.199553345G>T	NCBI36
NG_023337.1:g.39143G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.869G>T MANE Select	ENSP00000356293.4:p.Cys290Phe
ENST00000263946.7:c.869G>T	ENSP00000263946.3:p.Cys290Phe
ENST00000352845.3:c.869G>T	ENSP00000295597.3:p.Cys290Phe
ENST00000367324.7:c.869G>T	ENSP00000356293.3:p.Cys290Phe
ENST00000475988.1:n.211G>T
ENST00000622031.4:c.866G>T	ENSP00000482213.1:p.Cys289Phe
NM_000299.3:c.869G>T	NP_000290.2:p.Cys290Phe
NM_001005337.2:c.869G>T	NP_001005337.1:p.Cys290Phe
NM_001005337.3:c.869G>T MANE Select	NP_001005337.1:p.Cys290Phe
NM_000299.4:c.869G>T	NP_000290.2:p.Cys290Phe