Canonical Allele Identifier: CA406933010

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861620-G-T
• MyVariant Identifiers: chr19:g.50364877G>T (hg19) ; chr19:g.49861620G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861620G>T , CM000681.2:g.49861620G>T	GRCh38
NC_000019.9:g.50364877G>T , CM000681.1:g.50364877G>T	GRCh37
NC_000019.8:g.55056689G>T	NCBI36
NG_027717.1:g.10946C>A
NG_050666.1:g.17777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1374C>A MANE Select	ENSP00000323511.2:p.Arg458=
ENST00000636840.1:c.47C>A
ENST00000322344.7:c.1374C>A	ENSP00000323511.2:p.Arg458=
ENST00000593946.5:c.*1301C>A	ENSP00000468896.1:n.*1301C>A
ENST00000594661.5:n.1875C>A
ENST00000595081.5:n.277C>A
ENST00000596014.5:c.1374C>A	ENSP00000472300.1:p.Arg458=
ENST00000597965.2:c.81C>A	ENSP00000471097.2:p.Arg27=
ENST00000599454.5:n.294C>A
ENST00000600573.5:c.1281C>A	ENSP00000469826.1:p.Arg427=
ENST00000600910.5:c.1264C>A	ENSP00000473137.1:p.Pro422Thr
ENST00000601816.3:n.349C>A
ENST00000625216.2:c.455C>A	ENSP00000486898.1:n.455C>A
ENST00000627232.2:c.1294C>A	ENSP00000486037.1:n.1294C>A
ENST00000631020.2:c.1266C>A	ENSP00000486707.1:p.Arg422=
NM_007254.3:c.1374C>A	NP_009185.2:p.Arg458=
NM_007254.4:c.1374C>A MANE Select	NP_009185.2:p.Arg458=