Canonical Allele Identifier: CA9586560

Gene: PNKP

Linked Data

• dbSNP Id: rs769490709
• ExAC: 19:50365302 C / T
• gnomAD v2: 19-50365302-C-T
• MyVariant Identifiers: chr19:g.50365302C>T (hg19) ; chr19:g.49862045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862045C>T , CM000681.2:g.49862045C>T	GRCh38
NC_000019.9:g.50365302C>T , CM000681.1:g.50365302C>T	GRCh37
NC_000019.8:g.55057114C>T	NCBI36
NG_027717.1:g.10521G>A
NG_050666.1:g.18202C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1187G>A MANE Select	ENSP00000323511.2:p.Arg396Lys
ENST00000322344.7:c.1187G>A	ENSP00000323511.2:p.Arg396Lys
ENST00000593706.3:n.621G>A
ENST00000593946.5:c.*1114G>A	ENSP00000468896.1:n.*1114G>A
ENST00000594661.5:n.1688G>A
ENST00000596014.5:c.1187G>A	ENSP00000472300.1:p.Arg396Lys
ENST00000599454.5:n.31G>A
ENST00000600573.5:c.1094G>A	ENSP00000469826.1:p.Arg365Lys
ENST00000600910.5:c.1187G>A	ENSP00000473137.1:p.Arg396Lys
ENST00000601816.3:n.86G>A
ENST00000625216.2:c.268G>A	ENSP00000486898.1:n.268G>A
ENST00000627232.2:c.1107G>A	ENSP00000486037.1:n.1107G>A
ENST00000631020.2:c.1079G>A	ENSP00000486707.1:p.Arg360Lys
NM_007254.3:c.1187G>A	NP_009185.2:p.Arg396Lys
NM_007254.4:c.1187G>A MANE Select	NP_009185.2:p.Arg396Lys