Canonical Allele Identifier: CA223010

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861609C>T , CM000681.2:g.49861609C>T	GRCh38
NC_000019.9:g.50364866C>T , CM000681.1:g.50364866C>T	GRCh37
NC_000019.8:g.55056678C>T	NCBI36
NG_027717.1:g.10957G>A
NG_050666.1:g.17766C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.1385G>A MANE Select	NP_009185.2:p.Arg462Gln
ENST00000322344.8:c.1385G>A MANE Select	ENSP00000323511.2:p.Arg462Gln
NM_007254.3:c.1385G>A	NP_009185.2:p.Arg462Gln
ENST00000322344.7:c.1385G>A	ENSP00000323511.2:p.Arg462Gln
ENST00000593946.5:c.*1312G>A	ENSP00000468896.1:n.*1312G>A
ENST00000594661.5:n.1886G>A
ENST00000595081.5:n.288G>A
ENST00000596014.5:c.1385G>A	ENSP00000472300.1:p.Arg462Gln
ENST00000597965.2:c.92G>A	ENSP00000471097.2:p.Arg31Gln
ENST00000599454.5:n.305G>A
ENST00000600573.5:c.1292G>A	ENSP00000469826.1:p.Arg431Gln
ENST00000600910.5:c.1275G>A	ENSP00000473137.1:p.Pro425=
ENST00000601816.3:n.360G>A
ENST00000625216.2:c.466G>A	ENSP00000486898.1:n.466G>A
ENST00000627232.2:c.1305G>A	ENSP00000486037.1:n.1305G>A
ENST00000631020.2:c.1277G>A	ENSP00000486707.1:p.Arg426Gln
ENST00000636840.1:c.58G>A