Canonical Allele Identifier: CA9586372

Gene: PNKP

Linked Data

• dbSNP Id: rs762447921
• ExAC: 19:50364716 A / G
• gnomAD v2: 19-50364716-A-G
• gnomAD v4: 19-49861459-A-G
• MyVariant Identifiers: chr19:g.50364716A>G (hg19) ; chr19:g.49861459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861459A>G , CM000681.2:g.49861459A>G	GRCh38
NC_000019.9:g.50364716A>G , CM000681.1:g.50364716A>G	GRCh37
NC_000019.8:g.55056528A>G	NCBI36
NG_027717.1:g.11107T>C
NG_050666.1:g.17616A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1438T>C MANE Select	ENSP00000323511.2:p.Tyr480His
ENST00000636840.1:c.59+149T>C
ENST00000640501.1:c.44T>C
ENST00000322344.7:c.1438T>C	ENSP00000323511.2:p.Tyr480His
ENST00000593946.5:c.*1365T>C	ENSP00000468896.1:n.*1365T>C
ENST00000594661.5:n.1939T>C
ENST00000595081.5:n.341T>C
ENST00000596014.5:c.1438T>C	ENSP00000472300.1:p.Tyr480His
ENST00000597965.2:c.145T>C	ENSP00000471097.2:p.Tyr49His
ENST00000599454.5:n.358T>C
ENST00000600573.5:c.1345T>C	ENSP00000469826.1:p.Tyr449His
ENST00000600910.5:c.1328T>C	ENSP00000473137.1:p.Val443Ala
ENST00000601816.3:n.510T>C
ENST00000625216.2:c.519T>C	ENSP00000486898.1:n.519T>C
ENST00000627232.2:c.1358T>C	ENSP00000486037.1:n.1358T>C
ENST00000631020.2:c.1330T>C	ENSP00000486707.1:p.Tyr444His
NM_007254.3:c.1438T>C	NP_009185.2:p.Tyr480His
NM_007254.4:c.1438T>C MANE Select	NP_009185.2:p.Tyr480His