Canonical Allele Identifier: CA508296608

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2022799
• ClinVar RCV Id: RCV002875692
• dbSNP Id: rs1470343514
• gnomAD v2: 19-50364770-G-A
• gnomAD v4: 19-49861513-G-A
• MyVariant Identifiers: chr19:g.50364770G>A (hg19) ; chr19:g.49861513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861513G>A , CM000681.2:g.49861513G>A	GRCh38
NC_000019.9:g.50364770G>A , CM000681.1:g.50364770G>A	GRCh37
NC_000019.8:g.55056582G>A	NCBI36
NG_027717.1:g.11053C>T
NG_050666.1:g.17670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1387-3C>T MANE Select	ENSP00000323511.2:n.1387-3C>T
ENST00000636840.1:c.59+95C>T
ENST00000322344.7:c.1387-3C>T	ENSP00000323511.2:n.1387-3C>T
ENST00000593946.5:c.*1314-3C>T	ENSP00000468896.1:n.*1314-3C>T
ENST00000594661.5:n.1888-3C>T
ENST00000595081.5:n.290-3C>T
ENST00000596014.5:c.1387-3C>T	ENSP00000472300.1:n.1387-3C>T
ENST00000597965.2:c.94-3C>T	ENSP00000471097.2:n.94-3C>T
ENST00000599454.5:n.307-3C>T
ENST00000600573.5:c.1294-3C>T	ENSP00000469826.1:n.1294-3C>T
ENST00000600910.5:c.1277-3C>T	ENSP00000473137.1:n.1277-3C>T
ENST00000601816.3:n.456C>T
ENST00000625216.2:c.468-3C>T	ENSP00000486898.1:n.468-3C>T
ENST00000627232.2:c.1307-3C>T	ENSP00000486037.1:n.1307-3C>T
ENST00000631020.2:c.1279-3C>T	ENSP00000486707.1:n.1279-3C>T
NM_007254.3:c.1387-3C>T	NP_009185.2:n.1387-3C>T
NM_007254.4:c.1387-3C>T MANE Select	NP_009185.2:n.1387-3C>T