Canonical Allele Identifier: CA406932893

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2913305
• ClinVar RCV Id: RCV003639240
• dbSNP Id: rs1568658269
• gnomAD v4: 19-49861502-C-T
• MyVariant Identifiers: chr19:g.50364759C>T (hg19) ; chr19:g.49861502C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861502C>T , CM000681.2:g.49861502C>T	GRCh38
NC_000019.9:g.50364759C>T , CM000681.1:g.50364759C>T	GRCh37
NC_000019.8:g.55056571C>T	NCBI36
NG_027717.1:g.11064G>A
NG_050666.1:g.17659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1395G>A MANE Select	ENSP00000323511.2:p.Glu465=
ENST00000636840.1:c.59+106G>A
ENST00000640501.1:c.1G>A
ENST00000322344.7:c.1395G>A	ENSP00000323511.2:p.Glu465=
ENST00000593946.5:c.*1322G>A	ENSP00000468896.1:n.*1322G>A
ENST00000594661.5:n.1896G>A
ENST00000595081.5:n.298G>A
ENST00000596014.5:c.1395G>A	ENSP00000472300.1:p.Glu465=
ENST00000597965.2:c.102G>A	ENSP00000471097.2:p.Glu34=
ENST00000599454.5:n.315G>A
ENST00000600573.5:c.1302G>A	ENSP00000469826.1:p.Glu434=
ENST00000600910.5:c.1285G>A	ENSP00000473137.1:p.Asp429Asn
ENST00000601816.3:n.467G>A
ENST00000625216.2:c.476G>A	ENSP00000486898.1:n.476G>A
ENST00000627232.2:c.1315G>A	ENSP00000486037.1:n.1315G>A
ENST00000631020.2:c.1287G>A	ENSP00000486707.1:p.Glu429=
NM_007254.3:c.1395G>A	NP_009185.2:p.Glu465=
NM_007254.4:c.1395G>A MANE Select	NP_009185.2:p.Glu465=