Canonical Allele Identifier: CA406880960

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2251032
• ClinVar RCV Id: RCV002771788
• MyVariant Identifiers: chr19:g.50365666A>G (hg19) ; chr19:g.49862409A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862409A>G , CM000681.2:g.49862409A>G	GRCh38
NC_000019.9:g.50365666A>G , CM000681.1:g.50365666A>G	GRCh37
NC_000019.8:g.55057478A>G	NCBI36
NG_027717.1:g.10157T>C
NG_050666.1:g.18566A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.991T>C MANE Select	ENSP00000323511.2:p.Trp331Arg
ENST00000322344.7:c.991T>C	ENSP00000323511.2:p.Trp331Arg
ENST00000593706.3:n.346T>C
ENST00000593946.5:c.*918T>C	ENSP00000468896.1:n.*918T>C
ENST00000594661.5:n.1492T>C
ENST00000596014.5:c.991T>C	ENSP00000472300.1:p.Trp331Arg
ENST00000600573.5:c.937-128T>C	ENSP00000469826.1:n.937-128T>C
ENST00000600910.5:c.991T>C	ENSP00000473137.1:p.Trp331Arg
ENST00000625216.2:c.169T>C	ENSP00000486898.1:p.Trp57Arg
ENST00000627232.2:c.911T>C	ENSP00000486037.1:n.911T>C
ENST00000627317.1:c.612T>C
ENST00000629179.1:n.762T>C
ENST00000631020.2:c.883T>C	ENSP00000486707.1:p.Trp295Arg
NM_007254.3:c.991T>C	NP_009185.2:p.Trp331Arg
NM_007254.4:c.991T>C MANE Select	NP_009185.2:p.Trp331Arg