Canonical Allele Identifier: CA9586347

Gene: PNKP

Linked Data

• dbSNP Id: rs371512234
• ExAC: 19:50364630 T / C
• gnomAD v2: 19-50364630-T-C
• gnomAD v3: 19-49861373-T-C
• gnomAD v4: 19-49861373-T-C
• MyVariant Identifiers: chr19:g.50364630T>C (hg19) ; chr19:g.49861373T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861373T>C , CM000681.2:g.49861373T>C	GRCh38
NC_000019.9:g.50364630T>C , CM000681.1:g.50364630T>C	GRCh37
NC_000019.8:g.55056442T>C	NCBI36
NG_027717.1:g.11193A>G
NG_050666.1:g.17530T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1449-8A>G MANE Select	ENSP00000323511.2:n.1449-8A>G
ENST00000636840.1:c.59+235A>G
ENST00000640501.1:c.55-12A>G
ENST00000322344.7:c.1449-8A>G	ENSP00000323511.2:n.1449-8A>G
ENST00000593946.5:c.*1376-8A>G	ENSP00000468896.1:n.*1376-8A>G
ENST00000594661.5:n.1950-8A>G
ENST00000595081.5:n.352-8A>G
ENST00000596014.5:c.1449-8A>G	ENSP00000472300.1:n.1449-8A>G
ENST00000597965.2:c.231A>G	ENSP00000471097.2:n.231A>G
ENST00000599454.5:n.369-8A>G
ENST00000600573.5:c.1356-8A>G	ENSP00000469826.1:n.1356-8A>G
ENST00000600910.5:c.1339-8A>G	ENSP00000473137.1:n.1339-8A>G
ENST00000601816.3:n.521-8A>G
ENST00000625216.2:c.530-8A>G	ENSP00000486898.1:n.530-8A>G
ENST00000627232.2:c.1369-8A>G	ENSP00000486037.1:n.1369-8A>G
ENST00000631020.2:c.1341-8A>G	ENSP00000486707.1:n.1341-8A>G
NM_007254.3:c.1449-8A>G	NP_009185.2:n.1449-8A>G
NM_007254.4:c.1449-8A>G MANE Select	NP_009185.2:n.1449-8A>G