Canonical Allele Identifier: CA406932833
Gene: PNKP HGNC NCBI

Linked Data

ClinVar Variation Id: 1044449
ClinVar RCV Id: RCV001348694
dbSNP Id: rs1231560062

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49861488G>A , CM000681.2:g.49861488G>A GRCh38
NC_000019.9:g.50364745G>A , CM000681.1:g.50364745G>A GRCh37
NC_000019.8:g.55056557G>A NCBI36
NG_027717.1:g.11078C>T
NG_050666.1:g.17645G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322344.8:c.1409C>T MANE Select ENSP00000323511.2:p.Ser470Phe
ENST00000636840.1:c.59+120C>T
ENST00000640501.1:c.15C>T
ENST00000322344.7:c.1409C>T ENSP00000323511.2:p.Ser470Phe
ENST00000593946.5:c.*1336C>T ENSP00000468896.1:n.*1336C>T
ENST00000594661.5:n.1910C>T
ENST00000595081.5:n.312C>T
ENST00000596014.5:c.1409C>T ENSP00000472300.1:p.Ser470Phe
ENST00000597965.2:c.116C>T ENSP00000471097.2:p.Ser39Phe
ENST00000599454.5:n.329C>T
ENST00000600573.5:c.1316C>T ENSP00000469826.1:p.Ser439Phe
ENST00000600910.5:c.1299C>T ENSP00000473137.1:p.Leu433=
ENST00000601816.3:n.481C>T
ENST00000625216.2:c.490C>T ENSP00000486898.1:n.490C>T
ENST00000627232.2:c.1329C>T ENSP00000486037.1:n.1329C>T
ENST00000631020.2:c.1301C>T ENSP00000486707.1:p.Ser434Phe
NM_007254.3:c.1409C>T NP_009185.2:p.Ser470Phe
NM_007254.4:c.1409C>T MANE Select NP_009185.2:p.Ser470Phe