Canonical Allele Identifier: CA2340621937
Gene: PNKP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49861366C= , CM000681.2:g.49861366C= GRCh38
NC_000019.9:g.50364623C= , CM000681.1:g.50364623C= GRCh37
NC_000019.8:g.55056435C= NCBI36
NG_027717.1:g.11200G=
NG_050666.1:g.17523C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000322344.8:c.1449-1G= MANE Select ENSP00000323511.2:n.1449-1G=
ENST00000636840.1:c.59+242G=
ENST00000640501.1:c.55-5G=
ENST00000322344.7:c.1449-1G= ENSP00000323511.2:n.1449-1G=
ENST00000593946.5:c.*1376-1G= ENSP00000468896.1:n.*1376-1G=
ENST00000594661.5:n.1950-1G=
ENST00000595081.5:n.352-1G=
ENST00000596014.5:c.1449-1G= ENSP00000472300.1:n.1449-1G=
ENST00000597965.2:c.238G= ENSP00000471097.2:n.238G=
ENST00000599454.5:n.369-1G=
ENST00000600573.5:c.1356-1G= ENSP00000469826.1:n.1356-1G=
ENST00000600910.5:c.1339-1G= ENSP00000473137.1:n.1339-1G=
ENST00000601816.3:n.521-1G=
ENST00000625216.2:c.530-1G= ENSP00000486898.1:n.530-1G=
ENST00000627232.2:c.1369-1G= ENSP00000486037.1:n.1369-1G=
ENST00000631020.2:c.1341-1G= ENSP00000486707.1:n.1341-1G=
NM_007254.3:c.1449-1G= NP_009185.2:n.1449-1G=
NM_007254.4:c.1449-1G= MANE Select NP_009185.2:n.1449-1G=