Canonical Allele Identifier: CA406933382

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861782-T-G
• MyVariant Identifiers: chr19:g.50365039T>G (hg19) ; chr19:g.49861782T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861782T>G , CM000681.2:g.49861782T>G	GRCh38
NC_000019.9:g.50365039T>G , CM000681.1:g.50365039T>G	GRCh37
NC_000019.8:g.55056851T>G	NCBI36
NG_027717.1:g.10784A>C
NG_050666.1:g.17939T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1288A>C MANE Select	ENSP00000323511.2:p.Ser430Arg
ENST00000322344.7:c.1288A>C	ENSP00000323511.2:p.Ser430Arg
ENST00000593946.5:c.*1215A>C	ENSP00000468896.1:n.*1215A>C
ENST00000594661.5:n.1789A>C
ENST00000595081.5:n.115A>C
ENST00000596014.5:c.1288A>C	ENSP00000472300.1:p.Ser430Arg
ENST00000599454.5:n.132A>C
ENST00000600573.5:c.1195A>C	ENSP00000469826.1:p.Ser399Arg
ENST00000600910.5:c.1189-87A>C	ENSP00000473137.1:n.1189-87A>C
ENST00000601816.3:n.187A>C
ENST00000625216.2:c.369A>C	ENSP00000486898.1:n.369A>C
ENST00000627232.2:c.1208A>C	ENSP00000486037.1:n.1208A>C
ENST00000631020.2:c.1180A>C	ENSP00000486707.1:p.Ser394Arg
NM_007254.3:c.1288A>C	NP_009185.2:p.Ser430Arg
NM_007254.4:c.1288A>C MANE Select	NP_009185.2:p.Ser430Arg