Canonical Allele Identifier: CA1324222

Gene: PKP1

Linked Data

• dbSNP Id: rs749780639
• ExAC: 1:201286687 T / C
• gnomAD v2: 1-201286687-T-C
• gnomAD v4: 1-201317559-T-C
• MyVariant Identifiers: chr1:g.201286687T>C (hg19) ; chr1:g.201317559T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317559T>C , CM000663.2:g.201317559T>C	GRCh38
NC_000001.10:g.201286687T>C , CM000663.1:g.201286687T>C	GRCh37
NC_000001.9:g.199553310T>C	NCBI36
NG_023337.1:g.39108T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367324.8:c.847-13T>C MANE Select	ENSP00000356293.4:n.847-13T>C
ENST00000263946.7:c.847-13T>C	ENSP00000263946.3:n.847-13T>C
ENST00000352845.3:c.847-13T>C	ENSP00000295597.3:n.847-13T>C
ENST00000367324.7:c.847-13T>C	ENSP00000356293.3:n.847-13T>C
ENST00000475988.1:n.189-13T>C
ENST00000622031.4:c.844-13T>C	ENSP00000482213.1:n.844-13T>C
NM_000299.3:c.847-13T>C	NP_000290.2:n.847-13T>C
NM_001005337.2:c.847-13T>C	NP_001005337.1:n.847-13T>C
NM_001005337.3:c.847-13T>C MANE Select	NP_001005337.1:n.847-13T>C
NM_000299.4:c.847-13T>C	NP_000290.2:n.847-13T>C