Canonical Allele Identifier: CA250516

Gene: PNKP

Linked Data

• ClinVar Variation Id: 4846
• ClinVar RCV Id: RCV000005119 ; RCV000188441 ; RCV001813953
• dbSNP Id: rs267606956
• gnomAD v4: 19-49862424-C-T
• MyVariant Identifiers: chr19:g.50365681C>T (hg19) ; chr19:g.49862424C>T (hg38)
• PubMed: PMID:20118933

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862424C>T , CM000681.2:g.49862424C>T	GRCh38
NC_000019.9:g.50365681C>T , CM000681.1:g.50365681C>T	GRCh37
NC_000019.8:g.55057493C>T	NCBI36
NG_027717.1:g.10142G>A
NG_050666.1:g.18581C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.976G>A MANE Select	ENSP00000323511.2:p.Glu326Lys
ENST00000322344.7:c.976G>A	ENSP00000323511.2:p.Glu326Lys
ENST00000593706.3:n.331G>A
ENST00000593946.5:c.*903G>A	ENSP00000468896.1:n.*903G>A
ENST00000594661.5:n.1477G>A
ENST00000596014.5:c.976G>A	ENSP00000472300.1:p.Glu326Lys
ENST00000600573.5:c.936+114G>A	ENSP00000469826.1:n.936+114G>A
ENST00000600910.5:c.976G>A	ENSP00000473137.1:p.Glu326Lys
ENST00000625216.2:c.154G>A	ENSP00000486898.1:p.Glu52Lys
ENST00000627232.2:c.896G>A	ENSP00000486037.1:n.896G>A
ENST00000627317.1:c.597G>A
ENST00000629179.1:n.747G>A
ENST00000631020.2:c.868G>A	ENSP00000486707.1:p.Glu290Lys
NM_007254.3:c.976G>A	NP_009185.2:p.Glu326Lys
NM_007254.4:c.976G>A MANE Select	NP_009185.2:p.Glu326Lys