Canonical Allele Identifier: CA9586414

Gene: PNKP

Linked Data

• ClinVar Variation Id: 1628534
• ClinVar RCV Id: RCV002125290
• dbSNP Id: rs530790386
• ExAC: 19:50364804 T / A
• gnomAD v2: 19-50364804-T-A
• gnomAD v3: 19-49861547-T-A
• gnomAD v4: 19-49861547-T-A
• MyVariant Identifiers: chr19:g.50364804T>A (hg19) ; chr19:g.49861547T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861547T>A , CM000681.2:g.49861547T>A	GRCh38
NC_000019.9:g.50364804T>A , CM000681.1:g.50364804T>A	GRCh37
NC_000019.8:g.55056616T>A	NCBI36
NG_027717.1:g.11019A>T
NG_050666.1:g.17704T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1387-37A>T MANE Select	ENSP00000323511.2:n.1387-37A>T
ENST00000636840.1:c.59+61A>T
ENST00000322344.7:c.1387-37A>T	ENSP00000323511.2:n.1387-37A>T
ENST00000593946.5:c.*1314-37A>T	ENSP00000468896.1:n.*1314-37A>T
ENST00000594661.5:n.1888-37A>T
ENST00000595081.5:n.290-37A>T
ENST00000596014.5:c.1387-37A>T	ENSP00000472300.1:n.1387-37A>T
ENST00000597965.2:c.94-37A>T	ENSP00000471097.2:n.94-37A>T
ENST00000599454.5:n.307-37A>T
ENST00000600573.5:c.1294-37A>T	ENSP00000469826.1:n.1294-37A>T
ENST00000600910.5:c.1277-37A>T	ENSP00000473137.1:n.1277-37A>T
ENST00000601816.3:n.422A>T
ENST00000625216.2:c.468-37A>T	ENSP00000486898.1:n.468-37A>T
ENST00000627232.2:c.1307-37A>T	ENSP00000486037.1:n.1307-37A>T
ENST00000631020.2:c.1279-37A>T	ENSP00000486707.1:n.1279-37A>T
NM_007254.3:c.1387-37A>T	NP_009185.2:n.1387-37A>T
NM_007254.4:c.1387-37A>T MANE Select	NP_009185.2:n.1387-37A>T