Canonical Allele Identifier: CA1324220
Gene: PKP1 HGNC NCBI

Linked Data

dbSNP Id: rs200793425
ExAC: 1:201286679 G / A
gnomAD v2: 1-201286679-G-A
gnomAD v3: 1-201317551-G-A
gnomAD v4: 1-201317551-G-A
MyVariant Identifiers: chr1:g.201286679G>A (hg19) chr1:g.201317551G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317551G>A , CM000663.2:g.201317551G>A GRCh38
NC_000001.10:g.201286679G>A , CM000663.1:g.201286679G>A GRCh37
NC_000001.9:g.199553302G>A NCBI36
NG_023337.1:g.39100G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367324.8:c.847-21G>A MANE Select ENSP00000356293.4:n.847-21G>A
ENST00000263946.7:c.847-21G>A ENSP00000263946.3:n.847-21G>A
ENST00000352845.3:c.847-21G>A ENSP00000295597.3:n.847-21G>A
ENST00000367324.7:c.847-21G>A ENSP00000356293.3:n.847-21G>A
ENST00000475988.1:n.189-21G>A
ENST00000622031.4:c.844-21G>A ENSP00000482213.1:n.844-21G>A
NM_000299.3:c.847-21G>A NP_000290.2:n.847-21G>A
NM_001005337.2:c.847-21G>A NP_001005337.1:n.847-21G>A
NM_001005337.3:c.847-21G>A MANE Select NP_001005337.1:n.847-21G>A
NM_000299.4:c.847-21G>A NP_000290.2:n.847-21G>A
Search 100 bp 5'
Search 100 bp 3'