Canonical Allele Identifier: CA406878724

Gene: PNKP

Linked Data

• gnomAD v4: 19-49862053-G-T
• MyVariant Identifiers: chr19:g.50365310G>T (hg19) ; chr19:g.49862053G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1179C>A MANE Select	ENSP00000323511.2:p.His393Gln
ENST00000322344.7:c.1179C>A	ENSP00000323511.2:p.His393Gln
ENST00000593706.3:n.613C>A
ENST00000593946.5:c.*1106C>A	ENSP00000468896.1:n.*1106C>A
ENST00000594661.5:n.1680C>A
ENST00000596014.5:c.1179C>A	ENSP00000472300.1:p.His393Gln
ENST00000599454.5:n.23C>A
ENST00000600573.5:c.1086C>A	ENSP00000469826.1:p.His362Gln
ENST00000600910.5:c.1179C>A	ENSP00000473137.1:p.His393Gln
ENST00000601816.3:n.78C>A
ENST00000625216.2:c.260C>A	ENSP00000486898.1:p.Thr87Lys
ENST00000627232.2:c.1099C>A	ENSP00000486037.1:n.1099C>A
ENST00000631020.2:c.1071C>A	ENSP00000486707.1:p.His357Gln
NM_007254.3:c.1179C>A	NP_009185.2:p.His393Gln
NM_007254.4:c.1179C>A MANE Select	NP_009185.2:p.His393Gln