Canonical Allele Identifier: CA36036505

Gene: PKP1

Linked Data

• dbSNP Id: rs1012382573
• gnomAD v2: 1-201286286-T-C
• gnomAD v3: 1-201317158-T-C
• gnomAD v4: 1-201317158-T-C
• MyVariant Identifiers: chr1:g.201286286T>C (hg19) ; chr1:g.201317158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317158T>C , CM000663.2:g.201317158T>C	GRCh38
NC_000001.10:g.201286286T>C , CM000663.1:g.201286286T>C	GRCh37
NC_000001.9:g.199552909T>C	NCBI36
NG_023337.1:g.38707T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.847-414T>C MANE Select	ENSP00000356293.4:n.847-414T>C
ENST00000263946.7:c.847-414T>C	ENSP00000263946.3:n.847-414T>C
ENST00000352845.3:c.847-414T>C	ENSP00000295597.3:n.847-414T>C
ENST00000367324.7:c.847-414T>C	ENSP00000356293.3:n.847-414T>C
ENST00000475988.1:n.189-414T>C
ENST00000622031.4:c.844-414T>C	ENSP00000482213.1:n.844-414T>C
NM_000299.3:c.847-414T>C	NP_000290.2:n.847-414T>C
NM_001005337.2:c.847-414T>C	NP_001005337.1:n.847-414T>C
NM_001005337.3:c.847-414T>C MANE Select	NP_001005337.1:n.847-414T>C
NM_000299.4:c.847-414T>C	NP_000290.2:n.847-414T>C