Canonical Allele Identifier: CA295144

Gene: PNKP

Linked Data

• ClinVar Variation Id: 138723
• ClinVar RCV Id: RCV000147349 ; RCV000314798 ; RCV000458308 ; RCV002312588
• dbSNP Id: rs3739206
• ExAC: 19:50364721 A / C
• gnomAD v2: 19-50364721-A-C
• gnomAD v3: 19-49861464-A-C
• gnomAD v4: 19-49861464-A-C
• MyVariant Identifiers: chr19:g.50364721A>C (hg19) ; chr19:g.49861464A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861464A>C , CM000681.2:g.49861464A>C	GRCh38
NC_000019.9:g.50364721A>C , CM000681.1:g.50364721A>C	GRCh37
NC_000019.8:g.55056533A>C	NCBI36
NG_027717.1:g.11102T>G
NG_050666.1:g.17621A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1433T>G MANE Select	ENSP00000323511.2:p.Val478Gly
ENST00000636840.1:c.59+144T>G
ENST00000640501.1:c.39T>G
ENST00000322344.7:c.1433T>G	ENSP00000323511.2:p.Val478Gly
ENST00000593946.5:c.*1360T>G	ENSP00000468896.1:n.*1360T>G
ENST00000594661.5:n.1934T>G
ENST00000595081.5:n.336T>G
ENST00000596014.5:c.1433T>G	ENSP00000472300.1:p.Val478Gly
ENST00000597965.2:c.140T>G	ENSP00000471097.2:p.Val47Gly
ENST00000599454.5:n.353T>G
ENST00000600573.5:c.1340T>G	ENSP00000469826.1:p.Val447Gly
ENST00000600910.5:c.1323T>G	ENSP00000473137.1:p.Gly441=
ENST00000601816.3:n.505T>G
ENST00000625216.2:c.514T>G	ENSP00000486898.1:n.514T>G
ENST00000627232.2:c.1353T>G	ENSP00000486037.1:n.1353T>G
ENST00000631020.2:c.1325T>G	ENSP00000486707.1:p.Val442Gly
NM_007254.3:c.1433T>G	NP_009185.2:p.Val478Gly
NM_007254.4:c.1433T>G MANE Select	NP_009185.2:p.Val478Gly