Canonical Allele Identifier: CA316501

Gene: PNKP

Linked Data

• ClinVar Variation Id: 206412
• ClinVar RCV Id: RCV000188456 ; RCV000226268 ; RCV001721212 ; RCV001131823 ; RCV002314738
• dbSNP Id: rs549000007
• ExAC: 19:50364929 G / C
• gnomAD v2: 19-50364929-G-C
• gnomAD v3: 19-49861672-G-C
• gnomAD v4: 19-49861672-G-C
• MyVariant Identifiers: chr19:g.50364929G>C (hg19) ; chr19:g.49861672G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861672G>C , CM000681.2:g.49861672G>C	GRCh38
NC_000019.9:g.50364929G>C , CM000681.1:g.50364929G>C	GRCh37
NC_000019.8:g.55056741G>C	NCBI36
NG_027717.1:g.10894C>G
NG_050666.1:g.17829G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1322C>G MANE Select	ENSP00000323511.2:p.Ala441Gly
ENST00000322344.7:c.1322C>G	ENSP00000323511.2:p.Ala441Gly
ENST00000593946.5:c.*1249C>G	ENSP00000468896.1:n.*1249C>G
ENST00000594661.5:n.1823C>G
ENST00000595081.5:n.225C>G
ENST00000596014.5:c.1322C>G	ENSP00000472300.1:p.Ala441Gly
ENST00000597965.2:c.29C>G	ENSP00000471097.2:p.Ala10Gly
ENST00000599454.5:n.242C>G
ENST00000600573.5:c.1229C>G	ENSP00000469826.1:p.Ala410Gly
ENST00000600910.5:c.1212C>G	ENSP00000473137.1:p.Arg404=
ENST00000601816.3:n.297C>G
ENST00000625216.2:c.403C>G	ENSP00000486898.1:n.403C>G
ENST00000627232.2:c.1242C>G	ENSP00000486037.1:n.1242C>G
ENST00000631020.2:c.1214C>G	ENSP00000486707.1:p.Ala405Gly
NM_007254.3:c.1322C>G	NP_009185.2:p.Ala441Gly
NM_007254.4:c.1322C>G MANE Select	NP_009185.2:p.Ala441Gly