Canonical Allele Identifier: CA316452

Gene: PNKP

Linked Data

• ClinVar Variation Id: 206386
• ClinVar RCV Id: RCV000188428 ; RCV000576288 ; RCV002327014
• dbSNP Id: rs570013652
• ExAC: 19:50368460 C / T
• gnomAD v2: 19-50368460-C-T
• gnomAD v3: 19-49865203-C-T
• gnomAD v4: 19-49865203-C-T
• MyVariant Identifiers: chr19:g.50368460C>T (hg19) ; chr19:g.49865203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49865203C>T , CM000681.2:g.49865203C>T	GRCh38
NC_000019.9:g.50368460C>T , CM000681.1:g.50368460C>T	GRCh37
NC_000019.8:g.55060272C>T	NCBI36
NG_027717.1:g.7363G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.422G>A MANE Select	ENSP00000323511.2:p.Arg141Gln
ENST00000636214.1:c.238G>A	ENSP00000489983.1:p.Gly80Arg
ENST00000322344.7:c.422G>A	ENSP00000323511.2:p.Arg141Gln
ENST00000593946.5:c.*349G>A	ENSP00000468896.1:n.*349G>A
ENST00000594661.5:n.836G>A
ENST00000596014.5:c.422G>A	ENSP00000472300.1:p.Arg141Gln
ENST00000596726.3:c.422G>A	ENSP00000470887.2:p.Arg141Gln
ENST00000599543.3:c.422G>A	ENSP00000469848.2:p.Arg141Gln
ENST00000600573.5:c.422G>A	ENSP00000469826.1:p.Arg141Gln
ENST00000600910.5:c.422G>A	ENSP00000473137.1:p.Arg141Gln
ENST00000625299.1:n.340G>A
ENST00000627232.2:c.422G>A	ENSP00000486037.1:p.Arg141Gln
ENST00000627317.1:c.181G>A
ENST00000629179.1:n.183-800G>A
ENST00000631020.2:c.422G>A	ENSP00000486707.1:p.Arg141Gln
NM_007254.3:c.422G>A	NP_009185.2:p.Arg141Gln
NM_007254.4:c.422G>A MANE Select	NP_009185.2:p.Arg141Gln