Canonical Allele Identifier: CA9586359

Gene: PNKP

Linked Data

• dbSNP Id: rs751360967
• ExAC: 19:50364679 C / G
• gnomAD v2: 19-50364679-C-G
• MyVariant Identifiers: chr19:g.50364679C>G (hg19) ; chr19:g.49861422C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861422C>G , CM000681.2:g.49861422C>G	GRCh38
NC_000019.9:g.50364679C>G , CM000681.1:g.50364679C>G	GRCh37
NC_000019.8:g.55056491C>G	NCBI36
NG_027717.1:g.11144G>C
NG_050666.1:g.17579C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1448+27G>C MANE Select	ENSP00000323511.2:n.1448+27G>C
ENST00000636840.1:c.59+186G>C
ENST00000640501.1:c.54+27G>C
ENST00000322344.7:c.1448+27G>C	ENSP00000323511.2:n.1448+27G>C
ENST00000593946.5:c.*1375+27G>C	ENSP00000468896.1:n.*1375+27G>C
ENST00000594661.5:n.1949+27G>C
ENST00000595081.5:n.351+27G>C
ENST00000596014.5:c.1448+27G>C	ENSP00000472300.1:n.1448+27G>C
ENST00000597965.2:c.182G>C	ENSP00000471097.2:n.182G>C
ENST00000599454.5:n.368+27G>C
ENST00000600573.5:c.1355+27G>C	ENSP00000469826.1:n.1355+27G>C
ENST00000600910.5:c.1338+27G>C	ENSP00000473137.1:n.1338+27G>C
ENST00000601816.3:n.520+27G>C
ENST00000625216.2:c.529+27G>C	ENSP00000486898.1:n.529+27G>C
ENST00000627232.2:c.1368+27G>C	ENSP00000486037.1:n.1368+27G>C
ENST00000631020.2:c.1340+27G>C	ENSP00000486707.1:n.1340+27G>C
NM_007254.3:c.1448+27G>C	NP_009185.2:n.1448+27G>C
NM_007254.4:c.1448+27G>C MANE Select	NP_009185.2:n.1448+27G>C