Canonical Allele Identifier: CA406932802

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364736G>T (hg19) ; chr19:g.49861479G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861479G>T , CM000681.2:g.49861479G>T	GRCh38
NC_000019.9:g.50364736G>T , CM000681.1:g.50364736G>T	GRCh37
NC_000019.8:g.55056548G>T	NCBI36
NG_027717.1:g.11087C>A
NG_050666.1:g.17636G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1418C>A MANE Select	ENSP00000323511.2:p.Pro473His
ENST00000636840.1:c.59+129C>A
ENST00000640501.1:c.24C>A
ENST00000322344.7:c.1418C>A	ENSP00000323511.2:p.Pro473His
ENST00000593946.5:c.*1345C>A	ENSP00000468896.1:n.*1345C>A
ENST00000594661.5:n.1919C>A
ENST00000595081.5:n.321C>A
ENST00000596014.5:c.1418C>A	ENSP00000472300.1:p.Pro473His
ENST00000597965.2:c.125C>A	ENSP00000471097.2:p.Pro42His
ENST00000599454.5:n.338C>A
ENST00000600573.5:c.1325C>A	ENSP00000469826.1:p.Pro442His
ENST00000600910.5:c.1308C>A	ENSP00000473137.1:p.Pro436=
ENST00000601816.3:n.490C>A
ENST00000625216.2:c.499C>A	ENSP00000486898.1:n.499C>A
ENST00000627232.2:c.1338C>A	ENSP00000486037.1:n.1338C>A
ENST00000631020.2:c.1310C>A	ENSP00000486707.1:p.Pro437His
NM_007254.3:c.1418C>A	NP_009185.2:p.Pro473His
NM_007254.4:c.1418C>A MANE Select	NP_009185.2:p.Pro473His