Canonical Allele Identifier: CA406879158

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862099T>G , CM000681.2:g.49862099T>G	GRCh38
NC_000019.9:g.50365356T>G , CM000681.1:g.50365356T>G	GRCh37
NC_000019.8:g.55057168T>G	NCBI36
NG_027717.1:g.10467A>C
NG_050666.1:g.18256T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.1133A>C MANE Select	NP_009185.2:p.Lys378Thr
ENST00000322344.8:c.1133A>C MANE Select	ENSP00000323511.2:p.Lys378Thr
NM_007254.3:c.1133A>C	NP_009185.2:p.Lys378Thr
ENST00000322344.7:c.1133A>C	ENSP00000323511.2:p.Lys378Thr
ENST00000593706.3:n.567A>C
ENST00000593946.5:c.*1060A>C	ENSP00000468896.1:n.*1060A>C
ENST00000594661.5:n.1634A>C
ENST00000596014.5:c.1133A>C	ENSP00000472300.1:p.Lys378Thr
ENST00000600573.5:c.1040A>C	ENSP00000469826.1:p.Lys347Thr
ENST00000600910.5:c.1133A>C	ENSP00000473137.1:p.Lys378Thr
ENST00000601816.3:n.32A>C
ENST00000625216.2:c.214A>C	ENSP00000486898.1:p.Ser72Arg
ENST00000627232.2:c.1053A>C	ENSP00000486037.1:n.1053A>C
ENST00000627317.1:c.754A>C
ENST00000631020.2:c.1025A>C	ENSP00000486707.1:p.Lys342Thr