Canonical Allele Identifier: CA406932644

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2821022
• ClinVar RCV Id: RCV003639833
• MyVariant Identifiers: chr19:g.50364695C>A (hg19) ; chr19:g.49861438C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861438C>A , CM000681.2:g.49861438C>A	GRCh38
NC_000019.9:g.50364695C>A , CM000681.1:g.50364695C>A	GRCh37
NC_000019.8:g.55056507C>A	NCBI36
NG_027717.1:g.11128G>T
NG_050666.1:g.17595C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1448+11G>T MANE Select	ENSP00000323511.2:n.1448+11G>T
ENST00000636840.1:c.59+170G>T
ENST00000640501.1:c.54+11G>T
ENST00000322344.7:c.1448+11G>T	ENSP00000323511.2:n.1448+11G>T
ENST00000593946.5:c.*1375+11G>T	ENSP00000468896.1:n.*1375+11G>T
ENST00000594661.5:n.1949+11G>T
ENST00000595081.5:n.351+11G>T
ENST00000596014.5:c.1448+11G>T	ENSP00000472300.1:n.1448+11G>T
ENST00000597965.2:c.166G>T	ENSP00000471097.2:p.Gly56Ter
ENST00000599454.5:n.368+11G>T
ENST00000600573.5:c.1355+11G>T	ENSP00000469826.1:n.1355+11G>T
ENST00000600910.5:c.1338+11G>T	ENSP00000473137.1:n.1338+11G>T
ENST00000601816.3:n.520+11G>T
ENST00000625216.2:c.529+11G>T	ENSP00000486898.1:n.529+11G>T
ENST00000627232.2:c.1368+11G>T	ENSP00000486037.1:n.1368+11G>T
ENST00000631020.2:c.1340+11G>T	ENSP00000486707.1:n.1340+11G>T
NM_007254.3:c.1448+11G>T	NP_009185.2:n.1448+11G>T
NM_007254.4:c.1448+11G>T MANE Select	NP_009185.2:n.1448+11G>T