Canonical Allele Identifier: CA9586670

Gene: PNKP

Linked Data

• dbSNP Id: rs773866725
• ExAC: 19:50365676 G / A
• gnomAD v2: 19-50365676-G-A
• gnomAD v4: 19-49862419-G-A
• MyVariant Identifiers: chr19:g.50365676G>A (hg19) ; chr19:g.49862419G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862419G>A , CM000681.2:g.49862419G>A	GRCh38
NC_000019.9:g.50365676G>A , CM000681.1:g.50365676G>A	GRCh37
NC_000019.8:g.55057488G>A	NCBI36
NG_027717.1:g.10147C>T
NG_050666.1:g.18576G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.981C>T MANE Select	ENSP00000323511.2:p.Phe327=
ENST00000322344.7:c.981C>T	ENSP00000323511.2:p.Phe327=
ENST00000593706.3:n.336C>T
ENST00000593946.5:c.*908C>T	ENSP00000468896.1:n.*908C>T
ENST00000594661.5:n.1482C>T
ENST00000596014.5:c.981C>T	ENSP00000472300.1:p.Phe327=
ENST00000600573.5:c.936+119C>T	ENSP00000469826.1:n.936+119C>T
ENST00000600910.5:c.981C>T	ENSP00000473137.1:p.Phe327=
ENST00000625216.2:c.159C>T	ENSP00000486898.1:p.Phe53=
ENST00000627232.2:c.901C>T	ENSP00000486037.1:n.901C>T
ENST00000627317.1:c.602C>T
ENST00000629179.1:n.752C>T
ENST00000631020.2:c.873C>T	ENSP00000486707.1:p.Phe291=
NM_007254.3:c.981C>T	NP_009185.2:p.Phe327=
NM_007254.4:c.981C>T MANE Select	NP_009185.2:p.Phe327=