Canonical Allele Identifier: CA9586440
Gene: PNKP HGNC NCBI

Linked Data

ClinVar Variation Id: 589516
dbSNP Id: rs778893834

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49861610G>A , CM000681.2:g.49861610G>A GRCh38
NC_000019.9:g.50364867G>A , CM000681.1:g.50364867G>A GRCh37
NC_000019.8:g.55056679G>A NCBI36
NG_027717.1:g.10956C>T
NG_050666.1:g.17767G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322344.8:c.1384C>T MANE Select ENSP00000323511.2:p.Arg462Trp
ENST00000636840.1:c.57C>T
ENST00000322344.7:c.1384C>T ENSP00000323511.2:p.Arg462Trp
ENST00000593946.5:c.*1311C>T ENSP00000468896.1:n.*1311C>T
ENST00000594661.5:n.1885C>T
ENST00000595081.5:n.287C>T
ENST00000596014.5:c.1384C>T ENSP00000472300.1:p.Arg462Trp
ENST00000597965.2:c.91C>T ENSP00000471097.2:p.Arg31Trp
ENST00000599454.5:n.304C>T
ENST00000600573.5:c.1291C>T ENSP00000469826.1:p.Arg431Trp
ENST00000600910.5:c.1274C>T ENSP00000473137.1:p.Pro425Leu
ENST00000601816.3:n.359C>T
ENST00000625216.2:c.465C>T ENSP00000486898.1:n.465C>T
ENST00000627232.2:c.1304C>T ENSP00000486037.1:n.1304C>T
ENST00000631020.2:c.1276C>T ENSP00000486707.1:p.Arg426Trp
NM_007254.3:c.1384C>T NP_009185.2:p.Arg462Trp
NM_007254.4:c.1384C>T MANE Select NP_009185.2:p.Arg462Trp