Canonical Allele Identifier: CA406933224

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364930C>G (hg19) ; chr19:g.49861673C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861673C>G , CM000681.2:g.49861673C>G	GRCh38
NC_000019.9:g.50364930C>G , CM000681.1:g.50364930C>G	GRCh37
NC_000019.8:g.55056742C>G	NCBI36
NG_027717.1:g.10893G>C
NG_050666.1:g.17830C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1321G>C MANE Select	ENSP00000323511.2:p.Ala441Pro
ENST00000322344.7:c.1321G>C	ENSP00000323511.2:p.Ala441Pro
ENST00000593946.5:c.*1248G>C	ENSP00000468896.1:n.*1248G>C
ENST00000594661.5:n.1822G>C
ENST00000595081.5:n.224G>C
ENST00000596014.5:c.1321G>C	ENSP00000472300.1:p.Ala441Pro
ENST00000597965.2:c.28G>C	ENSP00000471097.2:p.Ala10Pro
ENST00000599454.5:n.241G>C
ENST00000600573.5:c.1228G>C	ENSP00000469826.1:p.Ala410Pro
ENST00000600910.5:c.1211G>C	ENSP00000473137.1:p.Arg404Pro
ENST00000601816.3:n.296G>C
ENST00000625216.2:c.402G>C	ENSP00000486898.1:n.402G>C
ENST00000627232.2:c.1241G>C	ENSP00000486037.1:n.1241G>C
ENST00000631020.2:c.1213G>C	ENSP00000486707.1:p.Ala405Pro
NM_007254.3:c.1321G>C	NP_009185.2:p.Ala441Pro
NM_007254.4:c.1321G>C MANE Select	NP_009185.2:p.Ala441Pro