Canonical Allele Identifier: CA9586344

Gene: PNKP

Linked Data

• dbSNP Id: rs747689609
• ExAC: 19:50364622 C / T
• gnomAD v2: 19-50364622-C-T
• gnomAD v3: 19-49861365-C-T
• gnomAD v4: 19-49861365-C-T
• MyVariant Identifiers: chr19:g.50364622C>T (hg19) ; chr19:g.49861365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861365C>T , CM000681.2:g.49861365C>T	GRCh38
NC_000019.9:g.50364622C>T , CM000681.1:g.50364622C>T	GRCh37
NC_000019.8:g.55056434C>T	NCBI36
NG_027717.1:g.11201G>A
NG_050666.1:g.17522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1449G>A MANE Select	ENSP00000323511.2:p.Arg483=
ENST00000636840.1:c.59+243G>A
ENST00000640501.1:c.55-4G>A
ENST00000322344.7:c.1449G>A	ENSP00000323511.2:p.Arg483=
ENST00000593946.5:c.*1376G>A	ENSP00000468896.1:n.*1376G>A
ENST00000594661.5:n.1950G>A
ENST00000595081.5:n.352G>A
ENST00000596014.5:c.1449G>A	ENSP00000472300.1:p.Arg483=
ENST00000597965.2:c.239G>A	ENSP00000471097.2:n.239G>A
ENST00000599454.5:n.369G>A
ENST00000600573.5:c.1356G>A	ENSP00000469826.1:p.Arg452=
ENST00000600910.5:c.1339G>A	ENSP00000473137.1:p.Glu447Lys
ENST00000601816.3:n.521G>A
ENST00000625216.2:c.530G>A	ENSP00000486898.1:n.530G>A
ENST00000627232.2:c.1369G>A	ENSP00000486037.1:n.1369G>A
ENST00000631020.2:c.1341G>A	ENSP00000486707.1:p.Arg447=
NM_007254.3:c.1449G>A	NP_009185.2:p.Arg483=
NM_007254.4:c.1449G>A MANE Select	NP_009185.2:p.Arg483=