Canonical Allele Identifier: CA9586310

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861265G>A , CM000681.2:g.49861265G>A	GRCh38
NC_000019.9:g.50364522G>A , CM000681.1:g.50364522G>A	GRCh37
NC_000019.8:g.55056334G>A	NCBI36
NG_027717.1:g.11301C>T
NG_050666.1:g.17422G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.1549C>T MANE Select	NP_009185.2:p.Gln517Ter
ENST00000322344.8:c.1549C>T MANE Select	ENSP00000323511.2:p.Gln517Ter
NM_007254.3:c.1549C>T	NP_009185.2:p.Gln517Ter
ENST00000322344.7:c.1549C>T	ENSP00000323511.2:p.Gln517Ter
ENST00000593946.5:c.*1476C>T	ENSP00000468896.1:n.*1476C>T
ENST00000594661.5:n.2050C>T
ENST00000595081.5:n.452C>T
ENST00000596014.5:c.1549C>T	ENSP00000472300.1:p.Gln517Ter
ENST00000597965.2:c.339C>T	ENSP00000471097.2:n.339C>T
ENST00000599454.5:n.469C>T
ENST00000600573.5:c.1456C>T	ENSP00000469826.1:p.Gln486Ter
ENST00000600910.5:c.*71C>T	ENSP00000473137.1:n.*71C>T
ENST00000601816.3:n.621C>T
ENST00000627232.2:c.1469C>T	ENSP00000486037.1:n.1469C>T
ENST00000631020.2:c.1441C>T	ENSP00000486707.1:p.Gln481Ter
ENST00000636840.1:c.59+343C>T
ENST00000640501.1:c.151C>T