Canonical Allele Identifier: CA9586668

Gene: PNKP

Linked Data

• ClinVar Variation Id: 764964
• ClinVar RCV Id: RCV000943335 ; RCV001441315 ; RCV002382158
• dbSNP Id: rs150644303
• ExAC: 19:50365670 G / A
• gnomAD v2: 19-50365670-G-A
• gnomAD v3: 19-49862413-G-A
• gnomAD v4: 19-49862413-G-A
• MyVariant Identifiers: chr19:g.50365670G>A (hg19) ; chr19:g.50365670_50365674delinsAAGAA (hg19) ; chr19:g.49862413G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862413G>A , CM000681.2:g.49862413G>A	GRCh38
NC_000019.9:g.50365670G>A , CM000681.1:g.50365670G>A	GRCh37
NC_000019.8:g.55057482G>A	NCBI36
NG_027717.1:g.10153C>T
NG_050666.1:g.18570G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.987C>T MANE Select	ENSP00000323511.2:p.Leu329=
ENST00000322344.7:c.987C>T	ENSP00000323511.2:p.Leu329=
ENST00000593706.3:n.342C>T
ENST00000593946.5:c.*914C>T	ENSP00000468896.1:n.*914C>T
ENST00000594661.5:n.1488C>T
ENST00000596014.5:c.987C>T	ENSP00000472300.1:p.Leu329=
ENST00000600573.5:c.936+125C>T	ENSP00000469826.1:n.936+125C>T
ENST00000600910.5:c.987C>T	ENSP00000473137.1:p.Leu329=
ENST00000625216.2:c.165C>T	ENSP00000486898.1:p.Leu55=
ENST00000627232.2:c.907C>T	ENSP00000486037.1:n.907C>T
ENST00000627317.1:c.608C>T
ENST00000629179.1:n.758C>T
ENST00000631020.2:c.879C>T	ENSP00000486707.1:p.Leu293=
NM_007254.3:c.987C>T	NP_009185.2:p.Leu329=
NM_007254.4:c.987C>T MANE Select	NP_009185.2:p.Leu329=