Canonical Allele Identifier: CA406932896

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364760T>C (hg19) ; chr19:g.49861503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861503T>C , CM000681.2:g.49861503T>C	GRCh38
NC_000019.9:g.50364760T>C , CM000681.1:g.50364760T>C	GRCh37
NC_000019.8:g.55056572T>C	NCBI36
NG_027717.1:g.11063A>G
NG_050666.1:g.17660T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1394A>G MANE Select	ENSP00000323511.2:p.Glu465Gly
ENST00000636840.1:c.59+105A>G
ENST00000322344.7:c.1394A>G	ENSP00000323511.2:p.Glu465Gly
ENST00000593946.5:c.*1321A>G	ENSP00000468896.1:n.*1321A>G
ENST00000594661.5:n.1895A>G
ENST00000595081.5:n.297A>G
ENST00000596014.5:c.1394A>G	ENSP00000472300.1:p.Glu465Gly
ENST00000597965.2:c.101A>G	ENSP00000471097.2:p.Glu34Gly
ENST00000599454.5:n.314A>G
ENST00000600573.5:c.1301A>G	ENSP00000469826.1:p.Glu434Gly
ENST00000600910.5:c.1284A>G	ENSP00000473137.1:p.Arg428=
ENST00000601816.3:n.466A>G
ENST00000625216.2:c.475A>G	ENSP00000486898.1:n.475A>G
ENST00000627232.2:c.1314A>G	ENSP00000486037.1:n.1314A>G
ENST00000631020.2:c.1286A>G	ENSP00000486707.1:p.Glu429Gly
NM_007254.3:c.1394A>G	NP_009185.2:p.Glu465Gly
NM_007254.4:c.1394A>G MANE Select	NP_009185.2:p.Glu465Gly