Canonical Allele Identifier: CA508296181

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2805020
• ClinVar RCV Id: RCV003639629
• COSMIC: COSM4080227 ; COSM4080228
• MyVariant Identifiers: chr19:g.50365310G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862053G>A , CM000681.2:g.49862053G>A	GRCh38
NC_000019.9:g.50365310G>A , CM000681.1:g.50365310G>A	GRCh37
NC_000019.8:g.55057122G>A	NCBI36
NG_027717.1:g.10513C>T
NG_050666.1:g.18210G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1179C>T MANE Select	ENSP00000323511.2:p.His393=
ENST00000322344.7:c.1179C>T	ENSP00000323511.2:p.His393=
ENST00000593706.3:n.613C>T
ENST00000593946.5:c.*1106C>T	ENSP00000468896.1:n.*1106C>T
ENST00000594661.5:n.1680C>T
ENST00000596014.5:c.1179C>T	ENSP00000472300.1:p.His393=
ENST00000599454.5:n.23C>T
ENST00000600573.5:c.1086C>T	ENSP00000469826.1:p.His362=
ENST00000600910.5:c.1179C>T	ENSP00000473137.1:p.His393=
ENST00000601816.3:n.78C>T
ENST00000625216.2:c.260C>T	ENSP00000486898.1:p.Thr87Met
ENST00000627232.2:c.1099C>T	ENSP00000486037.1:n.1099C>T
ENST00000631020.2:c.1071C>T	ENSP00000486707.1:p.His357=
NM_007254.3:c.1179C>T	NP_009185.2:p.His393=
NM_007254.4:c.1179C>T MANE Select	NP_009185.2:p.His393=