Canonical Allele Identifier: CA406932776

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364729T>C (hg19) ; chr19:g.49861472T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861472T>C , CM000681.2:g.49861472T>C	GRCh38
NC_000019.9:g.50364729T>C , CM000681.1:g.50364729T>C	GRCh37
NC_000019.8:g.55056541T>C	NCBI36
NG_027717.1:g.11094A>G
NG_050666.1:g.17629T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1425A>G MANE Select	ENSP00000323511.2:p.Ser475=
ENST00000636840.1:c.59+136A>G
ENST00000640501.1:c.31A>G
ENST00000322344.7:c.1425A>G	ENSP00000323511.2:p.Ser475=
ENST00000593946.5:c.*1352A>G	ENSP00000468896.1:n.*1352A>G
ENST00000594661.5:n.1926A>G
ENST00000595081.5:n.328A>G
ENST00000596014.5:c.1425A>G	ENSP00000472300.1:p.Ser475=
ENST00000597965.2:c.132A>G	ENSP00000471097.2:p.Ser44=
ENST00000599454.5:n.345A>G
ENST00000600573.5:c.1332A>G	ENSP00000469826.1:p.Ser444=
ENST00000600910.5:c.1315A>G	ENSP00000473137.1:p.Arg439Gly
ENST00000601816.3:n.497A>G
ENST00000625216.2:c.506A>G	ENSP00000486898.1:n.506A>G
ENST00000627232.2:c.1345A>G	ENSP00000486037.1:n.1345A>G
ENST00000631020.2:c.1317A>G	ENSP00000486707.1:p.Ser439=
NM_007254.3:c.1425A>G	NP_009185.2:p.Ser475=
NM_007254.4:c.1425A>G MANE Select	NP_009185.2:p.Ser475=