Canonical Allele Identifier: CA406878713

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50365308A>G (hg19) ; chr19:g.49862051A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862051A>G , CM000681.2:g.49862051A>G	GRCh38
NC_000019.9:g.50365308A>G , CM000681.1:g.50365308A>G	GRCh37
NC_000019.8:g.55057120A>G	NCBI36
NG_027717.1:g.10515T>C
NG_050666.1:g.18208A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1181T>C MANE Select	ENSP00000323511.2:p.Val394Ala
ENST00000322344.7:c.1181T>C	ENSP00000323511.2:p.Val394Ala
ENST00000593706.3:n.615T>C
ENST00000593946.5:c.*1108T>C	ENSP00000468896.1:n.*1108T>C
ENST00000594661.5:n.1682T>C
ENST00000596014.5:c.1181T>C	ENSP00000472300.1:p.Val394Ala
ENST00000599454.5:n.25T>C
ENST00000600573.5:c.1088T>C	ENSP00000469826.1:p.Val363Ala
ENST00000600910.5:c.1181T>C	ENSP00000473137.1:p.Val394Ala
ENST00000601816.3:n.80T>C
ENST00000625216.2:c.262T>C	ENSP00000486898.1:p.Ter88Arg
ENST00000627232.2:c.1101T>C	ENSP00000486037.1:n.1101T>C
ENST00000631020.2:c.1073T>C	ENSP00000486707.1:p.Val358Ala
NM_007254.3:c.1181T>C	NP_009185.2:p.Val394Ala
NM_007254.4:c.1181T>C MANE Select	NP_009185.2:p.Val394Ala