Canonical Allele Identifier: CA406932800

Gene: PNKP

Linked Data

• ClinVar Variation Id: 436352
• ClinVar RCV Id: RCV000503474
• dbSNP Id: rs200014111
• gnomAD v2: 19-50364736-G-A
• gnomAD v3: 19-49861479-G-A
• gnomAD v4: 19-49861479-G-A
• MyVariant Identifiers: chr19:g.50364736G>A (hg19) ; chr19:g.49861479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861479G>A , CM000681.2:g.49861479G>A	GRCh38
NC_000019.9:g.50364736G>A , CM000681.1:g.50364736G>A	GRCh37
NC_000019.8:g.55056548G>A	NCBI36
NG_027717.1:g.11087C>T
NG_050666.1:g.17636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1418C>T MANE Select	ENSP00000323511.2:p.Pro473Leu
ENST00000636840.1:c.59+129C>T
ENST00000640501.1:c.24C>T
ENST00000322344.7:c.1418C>T	ENSP00000323511.2:p.Pro473Leu
ENST00000593946.5:c.*1345C>T	ENSP00000468896.1:n.*1345C>T
ENST00000594661.5:n.1919C>T
ENST00000595081.5:n.321C>T
ENST00000596014.5:c.1418C>T	ENSP00000472300.1:p.Pro473Leu
ENST00000597965.2:c.125C>T	ENSP00000471097.2:p.Pro42Leu
ENST00000599454.5:n.338C>T
ENST00000600573.5:c.1325C>T	ENSP00000469826.1:p.Pro442Leu
ENST00000600910.5:c.1308C>T	ENSP00000473137.1:p.Pro436=
ENST00000601816.3:n.490C>T
ENST00000625216.2:c.499C>T	ENSP00000486898.1:n.499C>T
ENST00000627232.2:c.1338C>T	ENSP00000486037.1:n.1338C>T
ENST00000631020.2:c.1310C>T	ENSP00000486707.1:p.Pro437Leu
NM_007254.3:c.1418C>T	NP_009185.2:p.Pro473Leu
NM_007254.4:c.1418C>T MANE Select	NP_009185.2:p.Pro473Leu