Canonical Allele Identifier: CA9586408

Gene: PNKP

Linked Data

• dbSNP Id: rs778604921
• ExAC: 19:50364797 C / T
• gnomAD v2: 19-50364797-C-T
• gnomAD v4: 19-49861540-C-T
• MyVariant Identifiers: chr19:g.50364797C>T (hg19) ; chr19:g.49861540C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861540C>T , CM000681.2:g.49861540C>T	GRCh38
NC_000019.9:g.50364797C>T , CM000681.1:g.50364797C>T	GRCh37
NC_000019.8:g.55056609C>T	NCBI36
NG_027717.1:g.11026G>A
NG_050666.1:g.17697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1387-30G>A MANE Select	ENSP00000323511.2:n.1387-30G>A
ENST00000636840.1:c.59+68G>A
ENST00000322344.7:c.1387-30G>A	ENSP00000323511.2:n.1387-30G>A
ENST00000593946.5:c.*1314-30G>A	ENSP00000468896.1:n.*1314-30G>A
ENST00000594661.5:n.1888-30G>A
ENST00000595081.5:n.290-30G>A
ENST00000596014.5:c.1387-30G>A	ENSP00000472300.1:n.1387-30G>A
ENST00000597965.2:c.94-30G>A	ENSP00000471097.2:n.94-30G>A
ENST00000599454.5:n.307-30G>A
ENST00000600573.5:c.1294-30G>A	ENSP00000469826.1:n.1294-30G>A
ENST00000600910.5:c.1277-30G>A	ENSP00000473137.1:n.1277-30G>A
ENST00000601816.3:n.429G>A
ENST00000625216.2:c.468-30G>A	ENSP00000486898.1:n.468-30G>A
ENST00000627232.2:c.1307-30G>A	ENSP00000486037.1:n.1307-30G>A
ENST00000631020.2:c.1279-30G>A	ENSP00000486707.1:n.1279-30G>A
NM_007254.3:c.1387-30G>A	NP_009185.2:n.1387-30G>A
NM_007254.4:c.1387-30G>A MANE Select	NP_009185.2:n.1387-30G>A