Canonical Allele Identifier: CA1324241

Gene: PKP1

Linked Data

• ClinVar Variation Id: 874107
• ClinVar RCV Id: RCV001096779
• dbSNP Id: rs142112484
• ExAC: 1:201286772 G / T
• gnomAD v2: 1-201286772-G-T
• gnomAD v3: 1-201317644-G-T
• gnomAD v4: 1-201317644-G-T
• MyVariant Identifiers: chr1:g.201286772G>T (hg19) ; chr1:g.201317644G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317644G>T , CM000663.2:g.201317644G>T	GRCh38
NC_000001.10:g.201286772G>T , CM000663.1:g.201286772G>T	GRCh37
NC_000001.9:g.199553395G>T	NCBI36
NG_023337.1:g.39193G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367324.8:c.919G>T MANE Select	ENSP00000356293.4:p.Ala307Ser
ENST00000263946.7:c.919G>T	ENSP00000263946.3:p.Ala307Ser
ENST00000352845.3:c.919G>T	ENSP00000295597.3:p.Ala307Ser
ENST00000367324.7:c.919G>T	ENSP00000356293.3:p.Ala307Ser
ENST00000475988.1:n.261G>T
ENST00000622031.4:c.916G>T	ENSP00000482213.1:p.Ala306Ser
NM_000299.3:c.919G>T	NP_000290.2:p.Ala307Ser
NM_001005337.2:c.919G>T	NP_001005337.1:p.Ala307Ser
NM_001005337.3:c.919G>T MANE Select	NP_001005337.1:p.Ala307Ser
NM_000299.4:c.919G>T	NP_000290.2:p.Ala307Ser