Canonical Allele Identifier: CA406932897

Gene: PNKP

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1394A>C MANE Select	ENSP00000323511.2:p.Glu465Ala
ENST00000636840.1:c.59+105A>C
ENST00000322344.7:c.1394A>C	ENSP00000323511.2:p.Glu465Ala
ENST00000593946.5:c.*1321A>C	ENSP00000468896.1:n.*1321A>C
ENST00000594661.5:n.1895A>C
ENST00000595081.5:n.297A>C
ENST00000596014.5:c.1394A>C	ENSP00000472300.1:p.Glu465Ala
ENST00000597965.2:c.101A>C	ENSP00000471097.2:p.Glu34Ala
ENST00000599454.5:n.314A>C
ENST00000600573.5:c.1301A>C	ENSP00000469826.1:p.Glu434Ala
ENST00000600910.5:c.1284A>C	ENSP00000473137.1:p.Arg428Ser
ENST00000601816.3:n.466A>C
ENST00000625216.2:c.475A>C	ENSP00000486898.1:n.475A>C
ENST00000627232.2:c.1314A>C	ENSP00000486037.1:n.1314A>C
ENST00000631020.2:c.1286A>C	ENSP00000486707.1:p.Glu429Ala
NM_007254.3:c.1394A>C	NP_009185.2:p.Glu465Ala
NM_007254.4:c.1394A>C MANE Select	NP_009185.2:p.Glu465Ala