Canonical Allele Identifier: CA422716434

Gene: PKP1

Linked Data

• dbSNP Id: rs756548415
• gnomAD v3: 1-201317655-C-G
• gnomAD v4: 1-201317655-C-G
• MyVariant Identifiers: chr1:g.201286783C>G (hg19) ; chr1:g.201317655C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317655C>G , CM000663.2:g.201317655C>G	GRCh38
NC_000001.10:g.201286783C>G , CM000663.1:g.201286783C>G	GRCh37
NC_000001.9:g.199553406C>G	NCBI36
NG_023337.1:g.39204C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.930C>G MANE Select	ENSP00000356293.4:p.Ala310=
ENST00000263946.7:c.930C>G	ENSP00000263946.3:p.Ala310=
ENST00000352845.3:c.930C>G	ENSP00000295597.3:p.Ala310=
ENST00000367324.7:c.930C>G	ENSP00000356293.3:p.Ala310=
ENST00000475988.1:n.272C>G
ENST00000622031.4:c.927C>G	ENSP00000482213.1:p.Ala309=
NM_000299.3:c.930C>G	NP_000290.2:p.Ala310=
NM_001005337.2:c.930C>G	NP_001005337.1:p.Ala310=
NM_001005337.3:c.930C>G MANE Select	NP_001005337.1:p.Ala310=
NM_000299.4:c.930C>G	NP_000290.2:p.Ala310=