Canonical Allele Identifier: CA2340622022

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861476A= , CM000681.2:g.49861476A=	GRCh38
NC_000019.9:g.50364733A= , CM000681.1:g.50364733A=	GRCh37
NC_000019.8:g.55056545A=	NCBI36
NG_027717.1:g.11090T=
NG_050666.1:g.17633A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1421T= MANE Select	ENSP00000323511.2:p.Val474=
ENST00000636840.1:c.59+132T=
ENST00000640501.1:c.27T=
ENST00000322344.7:c.1421T=	ENSP00000323511.2:p.Val474=
ENST00000593946.5:c.*1348T=	ENSP00000468896.1:n.*1348T=
ENST00000594661.5:n.1922T=
ENST00000595081.5:n.324T=
ENST00000596014.5:c.1421T=	ENSP00000472300.1:p.Val474=
ENST00000597965.2:c.128T=	ENSP00000471097.2:p.Val43=
ENST00000599454.5:n.341T=
ENST00000600573.5:c.1328T=	ENSP00000469826.1:p.Val443=
ENST00000600910.5:c.1311T=	ENSP00000473137.1:p.Arg437=
ENST00000601816.3:n.493T=
ENST00000625216.2:c.502T=	ENSP00000486898.1:n.502T=
ENST00000627232.2:c.1341T=	ENSP00000486037.1:n.1341T=
ENST00000631020.2:c.1313T=	ENSP00000486707.1:p.Val438=
NM_007254.3:c.1421T=	NP_009185.2:p.Val474=
NM_007254.4:c.1421T= MANE Select	NP_009185.2:p.Val474=