Canonical Allele Identifier: CA9586378

Gene: PNKP

Linked Data

• dbSNP Id: rs376683150
• ExAC: 19:50364735 G / A
• gnomAD v2: 19-50364735-G-A
• gnomAD v3: 19-49861478-G-A
• gnomAD v4: 19-49861478-G-A
• MyVariant Identifiers: chr19:g.50364735G>A (hg19) ; chr19:g.49861478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861478G>A , CM000681.2:g.49861478G>A	GRCh38
NC_000019.9:g.50364735G>A , CM000681.1:g.50364735G>A	GRCh37
NC_000019.8:g.55056547G>A	NCBI36
NG_027717.1:g.11088C>T
NG_050666.1:g.17635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1419C>T MANE Select	ENSP00000323511.2:p.Pro473=
ENST00000636840.1:c.59+130C>T
ENST00000640501.1:c.25C>T
ENST00000322344.7:c.1419C>T	ENSP00000323511.2:p.Pro473=
ENST00000593946.5:c.*1346C>T	ENSP00000468896.1:n.*1346C>T
ENST00000594661.5:n.1920C>T
ENST00000595081.5:n.322C>T
ENST00000596014.5:c.1419C>T	ENSP00000472300.1:p.Pro473=
ENST00000597965.2:c.126C>T	ENSP00000471097.2:p.Pro42=
ENST00000599454.5:n.339C>T
ENST00000600573.5:c.1326C>T	ENSP00000469826.1:p.Pro442=
ENST00000600910.5:c.1309C>T	ENSP00000473137.1:p.Arg437Cys
ENST00000601816.3:n.491C>T
ENST00000625216.2:c.500C>T	ENSP00000486898.1:n.500C>T
ENST00000627232.2:c.1339C>T	ENSP00000486037.1:n.1339C>T
ENST00000631020.2:c.1311C>T	ENSP00000486707.1:p.Pro437=
NM_007254.3:c.1419C>T	NP_009185.2:p.Pro473=
NM_007254.4:c.1419C>T MANE Select	NP_009185.2:p.Pro473=