Canonical Allele Identifier: CA406932804

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364737G>C (hg19) ; chr19:g.49861480G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861480G>C , CM000681.2:g.49861480G>C	GRCh38
NC_000019.9:g.50364737G>C , CM000681.1:g.50364737G>C	GRCh37
NC_000019.8:g.55056549G>C	NCBI36
NG_027717.1:g.11086C>G
NG_050666.1:g.17637G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1417C>G MANE Select	ENSP00000323511.2:p.Pro473Ala
ENST00000636840.1:c.59+128C>G
ENST00000640501.1:c.23C>G
ENST00000322344.7:c.1417C>G	ENSP00000323511.2:p.Pro473Ala
ENST00000593946.5:c.*1344C>G	ENSP00000468896.1:n.*1344C>G
ENST00000594661.5:n.1918C>G
ENST00000595081.5:n.320C>G
ENST00000596014.5:c.1417C>G	ENSP00000472300.1:p.Pro473Ala
ENST00000597965.2:c.124C>G	ENSP00000471097.2:p.Pro42Ala
ENST00000599454.5:n.337C>G
ENST00000600573.5:c.1324C>G	ENSP00000469826.1:p.Pro442Ala
ENST00000600910.5:c.1307C>G	ENSP00000473137.1:p.Pro436Arg
ENST00000601816.3:n.489C>G
ENST00000625216.2:c.498C>G	ENSP00000486898.1:n.498C>G
ENST00000627232.2:c.1337C>G	ENSP00000486037.1:n.1337C>G
ENST00000631020.2:c.1309C>G	ENSP00000486707.1:p.Pro437Ala
NM_007254.3:c.1417C>G	NP_009185.2:p.Pro473Ala
NM_007254.4:c.1417C>G MANE Select	NP_009185.2:p.Pro473Ala