{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA396537069", "communityStandardTitle": [ "NM_016373.4(WWOX):c.1114G>A (p.Gly372Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1396876[alleleid]", "alleleId": 1396876, "preferredName": "NM_016373.4(WWOX):c.1114G>A (p.Gly372Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1390703", "RCV": [ "RCV001891133" ], "variationId": 1390703 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.79245562G>A?assembly=hg19", "id": "chr16:g.79245562G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.79211665G>A?assembly=hg38", "id": "chr16:g.79211665G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587777127", "rs": 587777127 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-79211665-G-A?dataset=gnomad_r3", "id": "16-79211665-G-A", "variant": "16:79211665 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-79211665-G-A?dataset=gnomad_r4", "id": "16-79211665-G-A", "variant": "16:79211665 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 79211665, "referenceAllele": "G", "start": 79211664 } ], "hgvs": [ "NC_000016.10:g.79211665G>A", "CM000678.2:g.79211665G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 79245562, "referenceAllele": "G", "start": 79245561 } ], "hgvs": [ "NC_000016.9:g.79245562G>A", "CM000678.1:g.79245562G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 77803063, "referenceAllele": "G", "start": 77803062 } ], "hgvs": [ "NC_000016.8:g.77803063G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 1117012, "referenceAllele": "G", "start": 1117011 } ], "hgvs": [ "NG_011698.1:g.1117012G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001907" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1711, "referenceAllele": "G", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "ENST00000683929.1:c.*228G>A" ], "proteinEffect": { "hgvs": "ENSP00000507689.1:n.*228G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828895" }, { "coordinates": [ { "allele": "A", "end": 1239, "referenceAllele": "G", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "ENST00000566780.6:c.1114G>A" ], "proteinEffect": { "hgvs": "ENSP00000457230.1:p.Gly372Arg", "hgvsWellDefined": "ENSP00000457230.1:p.Gly372Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS760503", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000566780.6:c.1114G>A" }, "RefSeq": { "hgvs": "NM_016373.4:c.1114G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000457230.1:p.Gly372Arg" }, "RefSeq": { "hgvs": "NP_057457.1:p.Gly372Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "ENST00000402655.6:c.467G>A" ], "proteinEffect": { "hgvs": "ENSP00000384238.2:p.Gly156Glu", "hgvsWellDefined": "ENSP00000384238.2:p.Gly156Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS279584" }, { "coordinates": [ { "allele": "A", "end": 699, "referenceAllele": "G", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "ENST00000406884.6:c.574G>A" ], "proteinEffect": { "hgvs": "ENSP00000384495.2:p.Gly192Arg", "hgvsWellDefined": "ENSP00000384495.2:p.Gly192Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS280763" }, { "coordinates": [ { "allele": "A", "end": 668, "referenceAllele": "G", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "ENST00000539474.6:c.543G>A" ], "proteinEffect": { "hgvs": "ENSP00000445210.2:p.Trp181Ter", "hgvsWellDefined": "ENSP00000445210.2:p.Trp181_Gly213delinsGluGlyCysThrSerThrThrAlaAlaAlaAlaCysProHisGlnLysLeuArgAlaLysArgArgProGlyProCysGlyArgSerAlaArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361878" }, { "coordinates": [ { "allele": "A", "end": 181, "referenceAllele": "G", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "ENST00000566103.1:n.181G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS379192" }, { "coordinates": [ { "allele": "A", "end": 1480, "referenceAllele": "G", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "ENST00000566780.5:c.1114G>A" ], "proteinEffect": { "hgvs": "ENSP00000457230.1:p.Gly372Arg", "hgvsWellDefined": "ENSP00000457230.1:p.Gly372Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS379680" }, { "coordinates": [ { "allele": "A", "end": 1202, "referenceAllele": "G", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "ENST00000569332.5:c.*911G>A" ], "proteinEffect": { "hgvs": "ENSP00000454788.1:n.*911G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS381404" }, { "@id": "http://reg.genome.network/allele/PA2826816301", "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NM_001291997.1:c.775G>A" ], "proteinEffect": { "hgvs": "NP_001278926.1:p.Gly259Arg", "hgvsWellDefined": "NP_001278926.1:p.Gly259Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS024427" }, { "@id": "http://reg.genome.network/allele/PA100009", "coordinates": [ { "allele": "A", "end": 1480, "referenceAllele": "G", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NM_016373.3:c.1114G>A" ], "proteinEffect": { "hgvs": "NP_057457.1:p.Gly372Arg", "hgvsWellDefined": "NP_057457.1:p.Gly372Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS034655" }, { "coordinates": [ { "allele": "A", "end": 1335, "referenceAllele": "G", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_011523100.1:c.1210G>A" ], "proteinEffect": { "hgvs": "XP_011521402.1:p.Gly404Arg", "hgvsWellDefined": "XP_011521402.1:p.Gly404Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS090240" }, { "coordinates": [ { "allele": "A", "end": 1313, "referenceAllele": "G", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_011523103.3:c.*86G>A" ], "proteinEffect": { "hgvs": "XP_011521405.1:n.*86G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS546892" }, { "coordinates": [ { "allele": "A", "end": 945, "referenceAllele": "G", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "XM_017023279.1:c.200G>A" ], "proteinEffect": { "hgvs": "XP_016878768.1:p.Gly67Glu", "hgvsWellDefined": "XP_016878768.1:p.Gly67Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS574069" }, { "coordinates": [ { "allele": "T", "end": 4467, "referenceAllele": "C", "start": 4466 } ], "gene": "http://reg.genome.network/gene/GN006776", "geneNCBI_id": 4094, "geneSymbol": "MAF", "hgvs": [ "XM_024450279.1:c.*1265C>T" ], "proteinEffect": { "hgvs": "XP_024306047.1:n.*1265C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS583819" }, { "coordinates": [ { "allele": "T", "end": 4467, "referenceAllele": "C", "start": 4466 } ], "gene": "http://reg.genome.network/gene/GN006776", "geneNCBI_id": 4094, "geneSymbol": "MAF", "hgvs": [ "XR_001751902.2:n.4467C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598690" }, { "coordinates": [ { "allele": "T", "end": 4467, "referenceAllele": "C", "start": 4466 } ], "gene": "http://reg.genome.network/gene/GN006776", "geneNCBI_id": 4094, "geneSymbol": "MAF", "hgvs": [ "XR_002957802.1:n.4467C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603931" }, { "coordinates": [ { "allele": "T", "end": 4467, "referenceAllele": "C", "start": 4466 } ], "gene": "http://reg.genome.network/gene/GN006776", "geneNCBI_id": 4094, "geneSymbol": "MAF", "hgvs": [ "XR_002957803.1:n.4467C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603932" }, { "coordinates": [ { "allele": "T", "end": 4467, "referenceAllele": "C", "start": 4466 } ], "gene": "http://reg.genome.network/gene/GN006776", "geneNCBI_id": 4094, "geneSymbol": "MAF", "hgvs": [ "XR_002957804.1:n.4467C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603933" }, { "@id": "http://reg.genome.network/allele/PA100009", "coordinates": [ { "allele": "A", "end": 1239, "referenceAllele": "G", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NM_016373.4:c.1114G>A" ], "proteinEffect": { "hgvs": "NP_057457.1:p.Gly372Arg", "hgvsWellDefined": "NP_057457.1:p.Gly372Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS669107", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000566780.6:c.1114G>A" }, "RefSeq": { "hgvs": "NM_016373.4:c.1114G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000457230.1:p.Gly372Arg" }, "RefSeq": { "hgvs": "NP_057457.1:p.Gly372Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2826816301", "coordinates": [ { "allele": "A", "end": 1174, "referenceAllele": "G", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NM_001291997.2:c.775G>A" ], "proteinEffect": { "hgvs": "NP_001278926.1:p.Gly259Arg", "hgvsWellDefined": "NP_001278926.1:p.Gly259Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS682940" } ], "type": "nucleotide" }