Canonical Allele Identifier: CA406932697

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364708G>C (hg19) ; chr19:g.49861451G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861451G>C , CM000681.2:g.49861451G>C	GRCh38
NC_000019.9:g.50364708G>C , CM000681.1:g.50364708G>C	GRCh37
NC_000019.8:g.55056520G>C	NCBI36
NG_027717.1:g.11115C>G
NG_050666.1:g.17608G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1446C>G MANE Select	ENSP00000323511.2:p.Tyr482Ter
ENST00000636840.1:c.59+157C>G
ENST00000640501.1:c.52C>G
ENST00000322344.7:c.1446C>G	ENSP00000323511.2:p.Tyr482Ter
ENST00000593946.5:c.*1373C>G	ENSP00000468896.1:n.*1373C>G
ENST00000594661.5:n.1947C>G
ENST00000595081.5:n.349C>G
ENST00000596014.5:c.1446C>G	ENSP00000472300.1:p.Tyr482Ter
ENST00000597965.2:c.153C>G	ENSP00000471097.2:p.Tyr51Ter
ENST00000599454.5:n.366C>G
ENST00000600573.5:c.1353C>G	ENSP00000469826.1:p.Tyr451Ter
ENST00000600910.5:c.1336C>G	ENSP00000473137.1:p.Gln446Glu
ENST00000601816.3:n.518C>G
ENST00000625216.2:c.527C>G	ENSP00000486898.1:n.527C>G
ENST00000627232.2:c.1366C>G	ENSP00000486037.1:n.1366C>G
ENST00000631020.2:c.1338C>G	ENSP00000486707.1:p.Tyr446Ter
NM_007254.3:c.1446C>G	NP_009185.2:p.Tyr482Ter
NM_007254.4:c.1446C>G MANE Select	NP_009185.2:p.Tyr482Ter