Canonical Allele Identifier: CA406932707

Gene: PNKP

Linked Data

• dbSNP Id: rs2122316967
• gnomAD v4: 19-49861453-A-G
• COSMIC: COSM5572685 ; COSM5572686
• MyVariant Identifiers: chr19:g.50364710A>G (hg19) ; chr19:g.49861453A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861453A>G , CM000681.2:g.49861453A>G	GRCh38
NC_000019.9:g.50364710A>G , CM000681.1:g.50364710A>G	GRCh37
NC_000019.8:g.55056522A>G	NCBI36
NG_027717.1:g.11113T>C
NG_050666.1:g.17610A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1444T>C MANE Select	ENSP00000323511.2:p.Tyr482His
ENST00000636840.1:c.59+155T>C
ENST00000640501.1:c.50T>C
ENST00000322344.7:c.1444T>C	ENSP00000323511.2:p.Tyr482His
ENST00000593946.5:c.*1371T>C	ENSP00000468896.1:n.*1371T>C
ENST00000594661.5:n.1945T>C
ENST00000595081.5:n.347T>C
ENST00000596014.5:c.1444T>C	ENSP00000472300.1:p.Tyr482His
ENST00000597965.2:c.151T>C	ENSP00000471097.2:p.Tyr51His
ENST00000599454.5:n.364T>C
ENST00000600573.5:c.1351T>C	ENSP00000469826.1:p.Tyr451His
ENST00000600910.5:c.1334T>C	ENSP00000473137.1:p.Leu445Pro
ENST00000601816.3:n.516T>C
ENST00000625216.2:c.525T>C	ENSP00000486898.1:n.525T>C
ENST00000627232.2:c.1364T>C	ENSP00000486037.1:n.1364T>C
ENST00000631020.2:c.1336T>C	ENSP00000486707.1:p.Tyr446His
NM_007254.3:c.1444T>C	NP_009185.2:p.Tyr482His
NM_007254.4:c.1444T>C MANE Select	NP_009185.2:p.Tyr482His