Canonical Allele Identifier: CA9586370

Gene: PNKP

Linked Data

• dbSNP Id: rs761149656
• ExAC: 19:50364706 C / T
• gnomAD v2: 19-50364706-C-T
• gnomAD v3: 19-49861449-C-T
• gnomAD v4: 19-49861449-C-T
• MyVariant Identifiers: chr19:g.50364706C>T (hg19) ; chr19:g.49861449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861449C>T , CM000681.2:g.49861449C>T	GRCh38
NC_000019.9:g.50364706C>T , CM000681.1:g.50364706C>T	GRCh37
NC_000019.8:g.55056518C>T	NCBI36
NG_027717.1:g.11117G>A
NG_050666.1:g.17606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1448G>A MANE Select	ENSP00000323511.2:p.Arg483Lys
ENST00000636840.1:c.59+159G>A
ENST00000640501.1:c.54G>A
ENST00000322344.7:c.1448G>A	ENSP00000323511.2:p.Arg483Lys
ENST00000593946.5:c.*1375G>A	ENSP00000468896.1:n.*1375G>A
ENST00000594661.5:n.1949G>A
ENST00000595081.5:n.351G>A
ENST00000596014.5:c.1448G>A	ENSP00000472300.1:p.Arg483Lys
ENST00000597965.2:c.155G>A	ENSP00000471097.2:p.Arg52Lys
ENST00000599454.5:n.368G>A
ENST00000600573.5:c.1355G>A	ENSP00000469826.1:p.Arg452Lys
ENST00000600910.5:c.1338G>A	ENSP00000473137.1:p.Gln446=
ENST00000601816.3:n.520G>A
ENST00000625216.2:c.529G>A	ENSP00000486898.1:n.529G>A
ENST00000627232.2:c.1368G>A	ENSP00000486037.1:n.1368G>A
ENST00000631020.2:c.1340G>A	ENSP00000486707.1:p.Arg447Lys
NM_007254.3:c.1448G>A	NP_009185.2:p.Arg483Lys
NM_007254.4:c.1448G>A MANE Select	NP_009185.2:p.Arg483Lys