Canonical Allele Identifier: CA316509

Gene: PNKP

Linked Data

• ClinVar Variation Id: 206416
• ClinVar RCV Id: RCV000188460 ; RCV000687022 ; RCV002390494
• dbSNP Id: rs142032281
• ExAC: 19:50364742 T / A
• gnomAD v2: 19-50364742-T-A
• gnomAD v3: 19-49861485-T-A
• gnomAD v4: 19-49861485-T-A
• MyVariant Identifiers: chr19:g.50364742T>A (hg19) ; chr19:g.50364742_50364744delinsAGA (hg19) ; chr19:g.49861485T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1412A>T MANE Select	ENSP00000323511.2:p.His471Leu
ENST00000636840.1:c.59+123A>T
ENST00000640501.1:c.18A>T
ENST00000322344.7:c.1412A>T	ENSP00000323511.2:p.His471Leu
ENST00000593946.5:c.*1339A>T	ENSP00000468896.1:n.*1339A>T
ENST00000594661.5:n.1913A>T
ENST00000595081.5:n.315A>T
ENST00000596014.5:c.1412A>T	ENSP00000472300.1:p.His471Leu
ENST00000597965.2:c.119A>T	ENSP00000471097.2:p.His40Leu
ENST00000599454.5:n.332A>T
ENST00000600573.5:c.1319A>T	ENSP00000469826.1:p.His440Leu
ENST00000600910.5:c.1302A>T	ENSP00000473137.1:p.Ser434=
ENST00000601816.3:n.484A>T
ENST00000625216.2:c.493A>T	ENSP00000486898.1:n.493A>T
ENST00000627232.2:c.1332A>T	ENSP00000486037.1:n.1332A>T
ENST00000631020.2:c.1304A>T	ENSP00000486707.1:p.His435Leu
NM_007254.3:c.1412A>T	NP_009185.2:p.His471Leu
NM_007254.4:c.1412A>T MANE Select	NP_009185.2:p.His471Leu