Canonical Allele Identifier: CA406933240

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861677-T-C
• MyVariant Identifiers: chr19:g.50364934T>C (hg19) ; chr19:g.49861677T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861677T>C , CM000681.2:g.49861677T>C	GRCh38
NC_000019.9:g.50364934T>C , CM000681.1:g.50364934T>C	GRCh37
NC_000019.8:g.55056746T>C	NCBI36
NG_027717.1:g.10889A>G
NG_050666.1:g.17834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1317A>G MANE Select	ENSP00000323511.2:p.Arg439=
ENST00000322344.7:c.1317A>G	ENSP00000323511.2:p.Arg439=
ENST00000593946.5:c.*1244A>G	ENSP00000468896.1:n.*1244A>G
ENST00000594661.5:n.1818A>G
ENST00000595081.5:n.220A>G
ENST00000596014.5:c.1317A>G	ENSP00000472300.1:p.Arg439=
ENST00000597965.2:c.24A>G	ENSP00000471097.2:p.Arg8=
ENST00000599454.5:n.237A>G
ENST00000600573.5:c.1224A>G	ENSP00000469826.1:p.Arg408=
ENST00000600910.5:c.1207A>G	ENSP00000473137.1:p.Ser403Gly
ENST00000601816.3:n.292A>G
ENST00000625216.2:c.398A>G	ENSP00000486898.1:n.398A>G
ENST00000627232.2:c.1237A>G	ENSP00000486037.1:n.1237A>G
ENST00000631020.2:c.1209A>G	ENSP00000486707.1:p.Arg403=
NM_007254.3:c.1317A>G	NP_009185.2:p.Arg439=
NM_007254.4:c.1317A>G MANE Select	NP_009185.2:p.Arg439=