Canonical Allele Identifier: CA2586460399

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2806277
• ClinVar RCV Id: RCV003639642
• gnomAD v4: 19-49861567-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861567G>C , CM000681.2:g.49861567G>C	GRCh38
NC_000019.9:g.50364824G>C , CM000681.1:g.50364824G>C	GRCh37
NC_000019.8:g.55056636G>C	NCBI36
NG_027717.1:g.10999C>G
NG_050666.1:g.17724G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1386+41C>G MANE Select	ENSP00000323511.2:n.1386+41C>G
ENST00000636840.1:c.59+41C>G
ENST00000322344.7:c.1386+41C>G	ENSP00000323511.2:n.1386+41C>G
ENST00000593946.5:c.*1313+41C>G	ENSP00000468896.1:n.*1313+41C>G
ENST00000594661.5:n.1887+41C>G
ENST00000595081.5:n.289+41C>G
ENST00000596014.5:c.1386+41C>G	ENSP00000472300.1:n.1386+41C>G
ENST00000597965.2:c.93+41C>G	ENSP00000471097.2:n.93+41C>G
ENST00000599454.5:n.306+41C>G
ENST00000600573.5:c.1293+41C>G	ENSP00000469826.1:n.1293+41C>G
ENST00000600910.5:c.1276+41C>G	ENSP00000473137.1:n.1276+41C>G
ENST00000601816.3:n.402C>G
ENST00000625216.2:c.467+41C>G	ENSP00000486898.1:n.467+41C>G
ENST00000627232.2:c.1306+41C>G	ENSP00000486037.1:n.1306+41C>G
ENST00000631020.2:c.1278+41C>G	ENSP00000486707.1:n.1278+41C>G
NM_007254.3:c.1386+41C>G	NP_009185.2:n.1386+41C>G
NM_007254.4:c.1386+41C>G MANE Select	NP_009185.2:n.1386+41C>G