Canonical Allele Identifier: CA316511

Gene: PNKP

Linked Data

• ClinVar Variation Id: 206417
• ClinVar RCV Id: RCV000188461 ; RCV001857634
• dbSNP Id: rs796052856
• gnomAD v2: 19-50364725-T-C
• gnomAD v4: 19-49861468-T-C
• MyVariant Identifiers: chr19:g.50364725T>C (hg19) ; chr19:g.49861468T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861468T>C , CM000681.2:g.49861468T>C	GRCh38
NC_000019.9:g.50364725T>C , CM000681.1:g.50364725T>C	GRCh37
NC_000019.8:g.55056537T>C	NCBI36
NG_027717.1:g.11098A>G
NG_050666.1:g.17625T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1429A>G MANE Select	ENSP00000323511.2:p.Met477Val
ENST00000636840.1:c.59+140A>G
ENST00000640501.1:c.35A>G
ENST00000322344.7:c.1429A>G	ENSP00000323511.2:p.Met477Val
ENST00000593946.5:c.*1356A>G	ENSP00000468896.1:n.*1356A>G
ENST00000594661.5:n.1930A>G
ENST00000595081.5:n.332A>G
ENST00000596014.5:c.1429A>G	ENSP00000472300.1:p.Met477Val
ENST00000597965.2:c.136A>G	ENSP00000471097.2:p.Met46Val
ENST00000599454.5:n.349A>G
ENST00000600573.5:c.1336A>G	ENSP00000469826.1:p.Met446Val
ENST00000600910.5:c.1319A>G	ENSP00000473137.1:p.His440Arg
ENST00000601816.3:n.501A>G
ENST00000625216.2:c.510A>G	ENSP00000486898.1:n.510A>G
ENST00000627232.2:c.1349A>G	ENSP00000486037.1:n.1349A>G
ENST00000631020.2:c.1321A>G	ENSP00000486707.1:p.Met441Val
NM_007254.3:c.1429A>G	NP_009185.2:p.Met477Val
NM_007254.4:c.1429A>G MANE Select	NP_009185.2:p.Met477Val