Canonical Allele Identifier: CA658658830

Gene: PNKP

Linked Data

• ClinVar Variation Id: 487230
• ClinVar RCV Id: RCV000576188
• dbSNP Id: rs1055654261
• gnomAD v4: 19-49861704-G-T
• MyVariant Identifiers: chr19:g.50364961G>T (hg19) ; chr19:g.49861704G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861704G>T , CM000681.2:g.49861704G>T	GRCh38
NC_000019.9:g.50364961G>T , CM000681.1:g.50364961G>T	GRCh37
NC_000019.8:g.55056773G>T	NCBI36
NG_027717.1:g.10862C>A
NG_050666.1:g.17861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1299-9C>A MANE Select	ENSP00000323511.2:n.1299-9C>A
ENST00000322344.7:c.1299-9C>A	ENSP00000323511.2:n.1299-9C>A
ENST00000593946.5:c.*1226-9C>A	ENSP00000468896.1:n.*1226-9C>A
ENST00000594661.5:n.1800-9C>A
ENST00000595081.5:n.193C>A
ENST00000596014.5:c.1299-9C>A	ENSP00000472300.1:n.1299-9C>A
ENST00000597965.2:c.6-9C>A	ENSP00000471097.2:n.6-9C>A
ENST00000599454.5:n.210C>A
ENST00000600573.5:c.1206-9C>A	ENSP00000469826.1:n.1206-9C>A
ENST00000600910.5:c.1189-9C>A	ENSP00000473137.1:n.1189-9C>A
ENST00000601816.3:n.265C>A
ENST00000625216.2:c.380-9C>A	ENSP00000486898.1:n.380-9C>A
ENST00000627232.2:c.1219-9C>A	ENSP00000486037.1:n.1219-9C>A
ENST00000631020.2:c.1191-9C>A	ENSP00000486707.1:n.1191-9C>A
NM_007254.3:c.1299-9C>A	NP_009185.2:n.1299-9C>A
NM_007254.4:c.1299-9C>A MANE Select	NP_009185.2:n.1299-9C>A