Canonical Allele Identifier: CA406932636

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2871469
• ClinVar RCV Id: RCV003638245
• gnomAD v4: 19-49861435-A-G
• MyVariant Identifiers: chr19:g.50364692A>G (hg19) ; chr19:g.49861435A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861435A>G , CM000681.2:g.49861435A>G	GRCh38
NC_000019.9:g.50364692A>G , CM000681.1:g.50364692A>G	GRCh37
NC_000019.8:g.55056504A>G	NCBI36
NG_027717.1:g.11131T>C
NG_050666.1:g.17592A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1448+14T>C MANE Select	ENSP00000323511.2:n.1448+14T>C
ENST00000636840.1:c.59+173T>C
ENST00000640501.1:c.54+14T>C
ENST00000322344.7:c.1448+14T>C	ENSP00000323511.2:n.1448+14T>C
ENST00000593946.5:c.*1375+14T>C	ENSP00000468896.1:n.*1375+14T>C
ENST00000594661.5:n.1949+14T>C
ENST00000595081.5:n.351+14T>C
ENST00000596014.5:c.1448+14T>C	ENSP00000472300.1:n.1448+14T>C
ENST00000597965.2:c.169T>C	ENSP00000471097.2:p.Ter57Gln
ENST00000599454.5:n.368+14T>C
ENST00000600573.5:c.1355+14T>C	ENSP00000469826.1:n.1355+14T>C
ENST00000600910.5:c.1338+14T>C	ENSP00000473137.1:n.1338+14T>C
ENST00000601816.3:n.520+14T>C
ENST00000625216.2:c.529+14T>C	ENSP00000486898.1:n.529+14T>C
ENST00000627232.2:c.1368+14T>C	ENSP00000486037.1:n.1368+14T>C
ENST00000631020.2:c.1340+14T>C	ENSP00000486707.1:n.1340+14T>C
NM_007254.3:c.1448+14T>C	NP_009185.2:n.1448+14T>C
NM_007254.4:c.1448+14T>C MANE Select	NP_009185.2:n.1448+14T>C