Canonical Allele Identifier: CA406932690

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364706C>A (hg19) ; chr19:g.49861449C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861449C>A , CM000681.2:g.49861449C>A	GRCh38
NC_000019.9:g.50364706C>A , CM000681.1:g.50364706C>A	GRCh37
NC_000019.8:g.55056518C>A	NCBI36
NG_027717.1:g.11117G>T
NG_050666.1:g.17606C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1448G>T MANE Select	ENSP00000323511.2:p.Arg483Met
ENST00000636840.1:c.59+159G>T
ENST00000640501.1:c.54G>T
ENST00000322344.7:c.1448G>T	ENSP00000323511.2:p.Arg483Met
ENST00000593946.5:c.*1375G>T	ENSP00000468896.1:n.*1375G>T
ENST00000594661.5:n.1949G>T
ENST00000595081.5:n.351G>T
ENST00000596014.5:c.1448G>T	ENSP00000472300.1:p.Arg483Met
ENST00000597965.2:c.155G>T	ENSP00000471097.2:p.Arg52Met
ENST00000599454.5:n.368G>T
ENST00000600573.5:c.1355G>T	ENSP00000469826.1:p.Arg452Met
ENST00000600910.5:c.1338G>T	ENSP00000473137.1:p.Gln446His
ENST00000601816.3:n.520G>T
ENST00000625216.2:c.529G>T	ENSP00000486898.1:n.529G>T
ENST00000627232.2:c.1368G>T	ENSP00000486037.1:n.1368G>T
ENST00000631020.2:c.1340G>T	ENSP00000486707.1:p.Arg447Met
NM_007254.3:c.1448G>T	NP_009185.2:p.Arg483Met
NM_007254.4:c.1448G>T MANE Select	NP_009185.2:p.Arg483Met