Canonical Allele Identifier: CA406932864

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364753C>G (hg19) ; chr19:g.49861496C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861496C>G , CM000681.2:g.49861496C>G	GRCh38
NC_000019.9:g.50364753C>G , CM000681.1:g.50364753C>G	GRCh37
NC_000019.8:g.55056565C>G	NCBI36
NG_027717.1:g.11070G>C
NG_050666.1:g.17653C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1401G>C MANE Select	ENSP00000323511.2:p.Thr467=
ENST00000636840.1:c.59+112G>C
ENST00000640501.1:c.7G>C
ENST00000322344.7:c.1401G>C	ENSP00000323511.2:p.Thr467=
ENST00000593946.5:c.*1328G>C	ENSP00000468896.1:n.*1328G>C
ENST00000594661.5:n.1902G>C
ENST00000595081.5:n.304G>C
ENST00000596014.5:c.1401G>C	ENSP00000472300.1:p.Thr467=
ENST00000597965.2:c.108G>C	ENSP00000471097.2:p.Thr36=
ENST00000599454.5:n.321G>C
ENST00000600573.5:c.1308G>C	ENSP00000469826.1:p.Thr436=
ENST00000600910.5:c.1291G>C	ENSP00000473137.1:p.Gly431Arg
ENST00000601816.3:n.473G>C
ENST00000625216.2:c.482G>C	ENSP00000486898.1:n.482G>C
ENST00000627232.2:c.1321G>C	ENSP00000486037.1:n.1321G>C
ENST00000631020.2:c.1293G>C	ENSP00000486707.1:p.Thr431=
NM_007254.3:c.1401G>C	NP_009185.2:p.Thr467=
NM_007254.4:c.1401G>C MANE Select	NP_009185.2:p.Thr467=