Canonical Allele Identifier: CA251167

Gene: PNKP

Linked Data

• ClinVar Variation Id: 159803
• ClinVar RCV Id: RCV000147374 ; RCV000724557 ; RCV001055727 ; RCV004544343 ; RCV002371985 ; RCV003387771
• dbSNP Id: rs372148913
• ExAC: 19:50365689 G / A
• gnomAD v2: 19-50365689-G-A
• gnomAD v3: 19-49862432-G-A
• gnomAD v4: 19-49862432-G-A
• MyVariant Identifiers: chr19:g.50365689G>A (hg19) ; chr19:g.49862432G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862432G>A , CM000681.2:g.49862432G>A	GRCh38
NC_000019.9:g.50365689G>A , CM000681.1:g.50365689G>A	GRCh37
NC_000019.8:g.55057501G>A	NCBI36
NG_027717.1:g.10134C>T
NG_050666.1:g.18589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.968C>T MANE Select	ENSP00000323511.2:p.Thr323Met
ENST00000322344.7:c.968C>T	ENSP00000323511.2:p.Thr323Met
ENST00000593706.3:n.323C>T
ENST00000593946.5:c.*895C>T	ENSP00000468896.1:n.*895C>T
ENST00000594661.5:n.1469C>T
ENST00000596014.5:c.968C>T	ENSP00000472300.1:p.Thr323Met
ENST00000600573.5:c.936+106C>T	ENSP00000469826.1:n.936+106C>T
ENST00000600910.5:c.968C>T	ENSP00000473137.1:p.Thr323Met
ENST00000625216.2:c.146C>T	ENSP00000486898.1:p.Thr49Met
ENST00000627232.2:c.888C>T	ENSP00000486037.1:n.888C>T
ENST00000627317.1:c.589C>T
ENST00000629179.1:n.739C>T
ENST00000631020.2:c.860C>T	ENSP00000486707.1:p.Thr287Met
NM_007254.3:c.968C>T	NP_009185.2:p.Thr323Met
NM_007254.4:c.968C>T MANE Select	NP_009185.2:p.Thr323Met