Canonical Allele Identifier: CA406932791
Gene: PNKP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49861476A>C , CM000681.2:g.49861476A>C GRCh38
NC_000019.9:g.50364733A>C , CM000681.1:g.50364733A>C GRCh37
NC_000019.8:g.55056545A>C NCBI36
NG_027717.1:g.11090T>G
NG_050666.1:g.17633A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322344.8:c.1421T>G MANE Select ENSP00000323511.2:p.Val474Gly
ENST00000636840.1:c.59+132T>G
ENST00000640501.1:c.27T>G
ENST00000322344.7:c.1421T>G ENSP00000323511.2:p.Val474Gly
ENST00000593946.5:c.*1348T>G ENSP00000468896.1:n.*1348T>G
ENST00000594661.5:n.1922T>G
ENST00000595081.5:n.324T>G
ENST00000596014.5:c.1421T>G ENSP00000472300.1:p.Val474Gly
ENST00000597965.2:c.128T>G ENSP00000471097.2:p.Val43Gly
ENST00000599454.5:n.341T>G
ENST00000600573.5:c.1328T>G ENSP00000469826.1:p.Val443Gly
ENST00000600910.5:c.1311T>G ENSP00000473137.1:p.Arg437=
ENST00000601816.3:n.493T>G
ENST00000625216.2:c.502T>G ENSP00000486898.1:n.502T>G
ENST00000627232.2:c.1341T>G ENSP00000486037.1:n.1341T>G
ENST00000631020.2:c.1313T>G ENSP00000486707.1:p.Val438Gly
NM_007254.3:c.1421T>G NP_009185.2:p.Val474Gly
NM_007254.4:c.1421T>G MANE Select NP_009185.2:p.Val474Gly