Canonical Allele Identifier: CA406932822

Gene: PNKP

Linked Data

• ClinVar Variation Id: 589042
• ClinVar RCV Id: RCV001371841 ; RCV002317986
• dbSNP Id: rs142032281
• gnomAD v4: 19-49861485-T-G
• MyVariant Identifiers: chr19:g.50364742T>G (hg19) ; chr19:g.49861485T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861485T>G , CM000681.2:g.49861485T>G	GRCh38
NC_000019.9:g.50364742T>G , CM000681.1:g.50364742T>G	GRCh37
NC_000019.8:g.55056554T>G	NCBI36
NG_027717.1:g.11081A>C
NG_050666.1:g.17642T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1412A>C MANE Select	ENSP00000323511.2:p.His471Pro
ENST00000636840.1:c.59+123A>C
ENST00000640501.1:c.18A>C
ENST00000322344.7:c.1412A>C	ENSP00000323511.2:p.His471Pro
ENST00000593946.5:c.*1339A>C	ENSP00000468896.1:n.*1339A>C
ENST00000594661.5:n.1913A>C
ENST00000595081.5:n.315A>C
ENST00000596014.5:c.1412A>C	ENSP00000472300.1:p.His471Pro
ENST00000597965.2:c.119A>C	ENSP00000471097.2:p.His40Pro
ENST00000599454.5:n.332A>C
ENST00000600573.5:c.1319A>C	ENSP00000469826.1:p.His440Pro
ENST00000600910.5:c.1302A>C	ENSP00000473137.1:p.Ser434=
ENST00000601816.3:n.484A>C
ENST00000625216.2:c.493A>C	ENSP00000486898.1:n.493A>C
ENST00000627232.2:c.1332A>C	ENSP00000486037.1:n.1332A>C
ENST00000631020.2:c.1304A>C	ENSP00000486707.1:p.His435Pro
NM_007254.3:c.1412A>C	NP_009185.2:p.His471Pro
NM_007254.4:c.1412A>C MANE Select	NP_009185.2:p.His471Pro