Canonical Allele Identifier: CA1219691196
Gene: PKP1 HGNC NCBI

Linked Data

dbSNP Id: rs1329127465

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317445G>T , CM000663.2:g.201317445G>T GRCh38
NC_000001.10:g.201286573G>T , CM000663.1:g.201286573G>T GRCh37
NC_000001.9:g.199553196G>T NCBI36
NG_023337.1:g.38994G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.847-127G>T MANE Select ENSP00000356293.4:n.847-127G>T
ENST00000263946.7:c.847-127G>T ENSP00000263946.3:n.847-127G>T
ENST00000352845.3:c.847-127G>T ENSP00000295597.3:n.847-127G>T
ENST00000367324.7:c.847-127G>T ENSP00000356293.3:n.847-127G>T
ENST00000475988.1:n.189-127G>T
ENST00000622031.4:c.844-127G>T ENSP00000482213.1:n.844-127G>T
NM_000299.3:c.847-127G>T NP_000290.2:n.847-127G>T
NM_001005337.2:c.847-127G>T NP_001005337.1:n.847-127G>T
NM_001005337.3:c.847-127G>T MANE Select NP_001005337.1:n.847-127G>T
NM_000299.4:c.847-127G>T NP_000290.2:n.847-127G>T