Canonical Allele Identifier: CA406932590

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364619C>G (hg19) ; chr19:g.49861362C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861362C>G , CM000681.2:g.49861362C>G	GRCh38
NC_000019.9:g.50364619C>G , CM000681.1:g.50364619C>G	GRCh37
NC_000019.8:g.55056431C>G	NCBI36
NG_027717.1:g.11204G>C
NG_050666.1:g.17519C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1452G>C MANE Select	ENSP00000323511.2:p.Lys484Asn
ENST00000636840.1:c.59+246G>C
ENST00000640501.1:c.55-1G>C
ENST00000322344.7:c.1452G>C	ENSP00000323511.2:p.Lys484Asn
ENST00000593946.5:c.*1379G>C	ENSP00000468896.1:n.*1379G>C
ENST00000594661.5:n.1953G>C
ENST00000595081.5:n.355G>C
ENST00000596014.5:c.1452G>C	ENSP00000472300.1:p.Lys484Asn
ENST00000597965.2:c.242G>C	ENSP00000471097.2:n.242G>C
ENST00000599454.5:n.372G>C
ENST00000600573.5:c.1359G>C	ENSP00000469826.1:p.Lys453Asn
ENST00000600910.5:c.1342G>C	ENSP00000473137.1:p.Ala448Pro
ENST00000601816.3:n.524G>C
ENST00000625216.2:c.533G>C	ENSP00000486898.1:n.533G>C
ENST00000627232.2:c.1372G>C	ENSP00000486037.1:n.1372G>C
ENST00000631020.2:c.1344G>C	ENSP00000486707.1:p.Lys448Asn
NM_007254.3:c.1452G>C	NP_009185.2:p.Lys484Asn
NM_007254.4:c.1452G>C MANE Select	NP_009185.2:p.Lys484Asn