Canonical Allele Identifier: CA9586366

Gene: PNKP

Linked Data

• ClinVar Variation Id: 378401
• ClinVar RCV Id: RCV000441951 ; RCV002524788
• dbSNP Id: rs748882543
• ExAC: 19:50364693 T / C
• gnomAD v2: 19-50364693-T-C
• gnomAD v3: 19-49861436-T-C
• gnomAD v4: 19-49861436-T-C
• MyVariant Identifiers: chr19:g.50364693T>C (hg19) ; chr19:g.49861436T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861436T>C , CM000681.2:g.49861436T>C	GRCh38
NC_000019.9:g.50364693T>C , CM000681.1:g.50364693T>C	GRCh37
NC_000019.8:g.55056505T>C	NCBI36
NG_027717.1:g.11130A>G
NG_050666.1:g.17593T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1448+13A>G MANE Select	ENSP00000323511.2:n.1448+13A>G
ENST00000636840.1:c.59+172A>G
ENST00000640501.1:c.54+13A>G
ENST00000322344.7:c.1448+13A>G	ENSP00000323511.2:n.1448+13A>G
ENST00000593946.5:c.*1375+13A>G	ENSP00000468896.1:n.*1375+13A>G
ENST00000594661.5:n.1949+13A>G
ENST00000595081.5:n.351+13A>G
ENST00000596014.5:c.1448+13A>G	ENSP00000472300.1:n.1448+13A>G
ENST00000597965.2:c.168A>G	ENSP00000471097.2:p.Gly56=
ENST00000599454.5:n.368+13A>G
ENST00000600573.5:c.1355+13A>G	ENSP00000469826.1:n.1355+13A>G
ENST00000600910.5:c.1338+13A>G	ENSP00000473137.1:n.1338+13A>G
ENST00000601816.3:n.520+13A>G
ENST00000625216.2:c.529+13A>G	ENSP00000486898.1:n.529+13A>G
ENST00000627232.2:c.1368+13A>G	ENSP00000486037.1:n.1368+13A>G
ENST00000631020.2:c.1340+13A>G	ENSP00000486707.1:n.1340+13A>G
NM_007254.3:c.1448+13A>G	NP_009185.2:n.1448+13A>G
NM_007254.4:c.1448+13A>G MANE Select	NP_009185.2:n.1448+13A>G