Canonical Allele Identifier: CA2586460357

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861428-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861428C>G , CM000681.2:g.49861428C>G	GRCh38
NC_000019.9:g.50364685C>G , CM000681.1:g.50364685C>G	GRCh37
NC_000019.8:g.55056497C>G	NCBI36
NG_027717.1:g.11138G>C
NG_050666.1:g.17585C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1448+21G>C MANE Select	ENSP00000323511.2:n.1448+21G>C
ENST00000636840.1:c.59+180G>C
ENST00000640501.1:c.54+21G>C
ENST00000322344.7:c.1448+21G>C	ENSP00000323511.2:n.1448+21G>C
ENST00000593946.5:c.*1375+21G>C	ENSP00000468896.1:n.*1375+21G>C
ENST00000594661.5:n.1949+21G>C
ENST00000595081.5:n.351+21G>C
ENST00000596014.5:c.1448+21G>C	ENSP00000472300.1:n.1448+21G>C
ENST00000597965.2:c.176G>C	ENSP00000471097.2:n.176G>C
ENST00000599454.5:n.368+21G>C
ENST00000600573.5:c.1355+21G>C	ENSP00000469826.1:n.1355+21G>C
ENST00000600910.5:c.1338+21G>C	ENSP00000473137.1:n.1338+21G>C
ENST00000601816.3:n.520+21G>C
ENST00000625216.2:c.529+21G>C	ENSP00000486898.1:n.529+21G>C
ENST00000627232.2:c.1368+21G>C	ENSP00000486037.1:n.1368+21G>C
ENST00000631020.2:c.1340+21G>C	ENSP00000486707.1:n.1340+21G>C
NM_007254.3:c.1448+21G>C	NP_009185.2:n.1448+21G>C
NM_007254.4:c.1448+21G>C MANE Select	NP_009185.2:n.1448+21G>C