Canonical Allele Identifier: CA508296324

Gene: PNKP

Linked Data

• gnomAD v4: 19-49862413-G-T
• MyVariant Identifiers: chr19:g.50365670G>T (hg19)

Genomic Alleles

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

Transcript Alleles

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