Canonical Allele Identifier: CA2340622223

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861678C= , CM000681.2:g.49861678C=	GRCh38
NC_000019.9:g.50364935C= , CM000681.1:g.50364935C=	GRCh37
NC_000019.8:g.55056747C=	NCBI36
NG_027717.1:g.10888G=
NG_050666.1:g.17835C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1316G= MANE Select	ENSP00000323511.2:p.Arg439=
ENST00000322344.7:c.1316G=	ENSP00000323511.2:p.Arg439=
ENST00000593946.5:c.*1243G=	ENSP00000468896.1:n.*1243G=
ENST00000594661.5:n.1817G=
ENST00000595081.5:n.219G=
ENST00000596014.5:c.1316G=	ENSP00000472300.1:p.Arg439=
ENST00000597965.2:c.23G=	ENSP00000471097.2:p.Arg8=
ENST00000599454.5:n.236G=
ENST00000600573.5:c.1223G=	ENSP00000469826.1:p.Arg408=
ENST00000600910.5:c.1206G=	ENSP00000473137.1:p.Pro402=
ENST00000601816.3:n.291G=
ENST00000625216.2:c.397G=	ENSP00000486898.1:n.397G=
ENST00000627232.2:c.1236G=	ENSP00000486037.1:n.1236G=
ENST00000631020.2:c.1208G=	ENSP00000486707.1:p.Arg403=
NM_007254.3:c.1316G=	NP_009185.2:p.Arg439=
NM_007254.4:c.1316G= MANE Select	NP_009185.2:p.Arg439=