{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340087", "communityStandardTitle": [ "NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18471[alleleid]", "alleleId": 18471, "preferredName": "NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3432", "RCV": [ "RCV000003601", "RCV002512713" ], "variationId": 3432 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-15627622-G-A", "id": "6-15627622-G-A", "variant": "6:15627622 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.15627622G>A?assembly=hg19", "id": "chr6:g.15627622G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.15627391G>A?assembly=hg38", "id": "chr6:g.15627391G>A" } ], "dbSNP": [ { "@id": 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"ENSP00000341680.6:p.Gln103_Ser351delinsLeuProAlaLeuIleAlaAspLeuGluSerMetThrAlaAsnLeuThrHisLeuGluAlaSerPheGluGluValGluAsnAsnLeuLeuHisLeuGluAspLeuCysGlyGlnCysGluLeuGluArgCysLysHisMetGlnSerGlnGlnLeuGluAsnTyrLysLysAsnLysArgLysGluLeuGluThrPheLysAlaGluLeuAspAlaGluHisAlaGlnLysValLeuGluMetGluHisThrGlnGlnMetLysLeuLysGluArgGlnLysPhePheGluGluAlaPheGlnGlnAspMetGluGlnTyrLeuSerThrGlyTyrLeuGlnIleAlaGluArgArgGluProIleGlySerMetSerSerMetGluValAsnValAspMetLeuGluGlnMetAspLeuMetAspIleSerAspGlnGluAlaLeuAspValPheLeuAsnSerGlyGlyGluGluAsnThrValLeuSerProAlaLeuGlyProGluSerSerThrCysGlnAsnGluIleThrLeuGlnValProAsnProSerGluLeuArgAlaLysProProSerSerSerSerThrCysThrAspSerAlaThrArgAspIleSerGluGlyGlyGluSerProValValGlnSerAspGluGluGluValGlnValAspThrAlaLeuAlaThrSerHisThrAspArgGluAlaThrProAspGlyGlyGluAspSerAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748226", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000344537.10:c.307C>T" }, "RefSeq": { 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], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "ENST00000355917.7:c.256C>T" ], "proteinEffect": { "hgvs": "ENSP00000348183.4:p.Gln86Ter", "hgvsWellDefined": 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"ENSP00000481997.1:p.Gln68_Ser316delinsLeuProAlaLeuIleAlaAspLeuGluSerMetThrAlaAsnLeuThrHisLeuGluAlaSerPheGluGluValGluAsnAsnLeuLeuHisLeuGluAspLeuCysGlyGlnCysGluLeuGluArgCysLysHisMetGlnSerGlnGlnLeuGluAsnTyrLysLysAsnLysArgLysGluLeuGluThrPheLysAlaGluLeuAspAlaGluHisAlaGlnLysValLeuGluMetGluHisThrGlnGlnMetLysLeuLysGluArgGlnLysPhePheGluGluAlaPheGlnGlnAspMetGluGlnTyrLeuSerThrGlyTyrLeuGlnIleAlaGluArgArgGluProIleGlySerMetSerSerMetGluValAsnValAspMetLeuGluGlnMetAspLeuMetAspIleSerAspGlnGluAlaLeuAspValPheLeuAsnSerGlyGlyGluGluAsnThrValLeuSerProAlaLeuGlyProGluSerSerThrCysGlnAsnGluIleThrLeuGlnValProAsnProSerGluLeuArgAlaLysProProSerSerSerSerThrCysThrAspSerAlaThrArgAspIleSerGluGlyGlyGluSerProValValGlnSerAspGluGluGluValGlnValAspThrAlaLeuAlaThrSerHisThrAspArgGluAlaThrProAspGlyGlyGluAspSerAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405935" }, { "@id": "http://reg.genome.network/allele/PA2826530129", "coordinates": [ { "allele": "T", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "NM_001271667.1:c.64C>T" ], "proteinEffect": { "hgvs": "NP_001258596.1:p.Gln22Ter", "hgvsWellDefined": "NP_001258596.1:p.Gln22_Ser270delinsLeuProAlaLeuIleAlaAspLeuGluSerMetThrAlaAsnLeuThrHisLeuGluAlaSerPheGluGluValGluAsnAsnLeuLeuHisLeuGluAspLeuCysGlyGlnCysGluLeuGluArgCysLysHisMetGlnSerGlnGlnLeuGluAsnTyrLysLysAsnLysArgLysGluLeuGluThrPheLysAlaGluLeuAspAlaGluHisAlaGlnLysValLeuGluMetGluHisThrGlnGlnMetLysLeuLysGluArgGlnLysPhePheGluGluAlaPheGlnGlnAspMetGluGlnTyrLeuSerThrGlyTyrLeuGlnIleAlaGluArgArgGluProIleGlySerMetSerSerMetGluValAsnValAspMetLeuGluGlnMetAspLeuMetAspIleSerAspGlnGluAlaLeuAspValPheLeuAsnSerGlyGlyGluGluAsnThrValLeuSerProAlaLeuGlyProGluSerSerThrCysGlnAsnGluIleThrLeuGlnValProAsnProSerGluLeuArgAlaLysProProSerSerSerSerThrCysThrAspSerAlaThrArgAspIleSerGluGlyGlyGluSerProValValGlnSerAspGluGluGluValGlnValAspThrAlaLeuAlaThrSerHisThrAspArgGluAlaThrProAspGlyGlyGluAspSerAspSerTer" 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], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "NM_001271669.1:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001258598.1:p.Gln68Ter", "hgvsWellDefined": "NP_001258598.1:p.Gln68_Ser316delinsLeuProAlaLeuIleAlaAspLeuGluSerMetThrAlaAsnLeuThrHisLeuGluAlaSerPheGluGluValGluAsnAsnLeuLeuHisLeuGluAspLeuCysGlyGlnCysGluLeuGluArgCysLysHisMetGlnSerGlnGlnLeuGluAsnTyrLysLysAsnLysArgLysGluLeuGluThrPheLysAlaGluLeuAspAlaGluHisAlaGlnLysValLeuGluMetGluHisThrGlnGlnMetLysLeuLysGluArgGlnLysPhePheGluGluAlaPheGlnGlnAspMetGluGlnTyrLeuSerThrGlyTyrLeuGlnIleAlaGluArgArgGluProIleGlySerMetSerSerMetGluValAsnValAspMetLeuGluGlnMetAspLeuMetAspIleSerAspGlnGluAlaLeuAspValPheLeuAsnSerGlyGlyGluGluAsnThrValLeuSerProAlaLeuGlyProGluSerSerThrCysGlnAsnGluIleThrLeuGlnValProAsnProSerGluLeuArgAlaLysProProSerSerSerSerThrCysThrAspSerAlaThrArgAspIleSerGluGlyGlyGluSerProValValGlnSerAspGluGluGluValGlnValAspThrAlaLeuAlaThrSerHisThrAspArgGluAlaThrProAspGlyGlyGluAspSerAspSerTer" 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"http://reg.genome.network/refseq/RS082158" }, { "coordinates": [ { "allele": "T", "end": 497, "referenceAllele": "C", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "XM_005249447.4:c.268C>T" ], "proteinEffect": { "hgvs": "XP_005249504.1:p.Gln90Ter", "hgvsWellDefined": 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"geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "XM_011514936.3:c.217C>T" ], "proteinEffect": { "hgvs": "XP_011513238.1:p.Gln73Ter", "hgvsWellDefined": "XP_011513238.1:p.Gln73_Ser321delinsLeuProAlaLeuIleAlaAspLeuGluSerMetThrAlaAsnLeuThrHisLeuGluAlaSerPheGluGluValGluAsnAsnLeuLeuHisLeuGluAspLeuCysGlyGlnCysGluLeuGluArgCysLysHisMetGlnSerGlnGlnLeuGluAsnTyrLysLysAsnLysArgLysGluLeuGluThrPheLysAlaGluLeuAspAlaGluHisAlaGlnLysValLeuGluMetGluHisThrGlnGlnMetLysLeuLysGluArgGlnLysPhePheGluGluAlaPheGlnGlnAspMetGluGlnTyrLeuSerThrGlyTyrLeuGlnIleAlaGluArgArgGluProIleGlySerMetSerSerMetGluValAsnValAspMetLeuGluGlnMetAspLeuMetAspIleSerAspGlnGluAlaLeuAspValPheLeuAsnSerGlyGlyGluGluAsnThrValLeuSerProAlaLeuGlyProGluSerSerThrCysGlnAsnGluIleThrLeuGlnValProAsnProSerGluLeuArgAlaLysProProSerSerSerSerThrCysThrAspSerAlaThrArgAspIleSerGluGlyGlyGluSerProValValGlnSerAspGluGluGluValGlnValAspThrAlaLeuAlaThrSerHisThrAspArgGluAlaThrProAspGlyGlyGluAspSerAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543528" }, { "@id": "http://reg.genome.network/allele/PA340090", "coordinates": [ { "allele": "T", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "NM_032122.5:c.307C>T" ], "proteinEffect": { "hgvs": "NP_115498.2:p.Gln103Ter", "hgvsWellDefined": 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"hgvs": "NM_032122.5:c.307C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341680.6:p.Gln103Ter" }, "RefSeq": { "hgvs": "NP_115498.2:p.Gln103Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "NR_036448.2:n.605C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702206" }, { "@id": "http://reg.genome.network/allele/PA2826530129", "coordinates": [ { "allele": "T", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "NM_001271667.2:c.64C>T" ], "proteinEffect": { "hgvs": "NP_001258596.1:p.Gln22Ter", "hgvsWellDefined": "NP_001258596.1:p.Gln22_Ser270delinsLeuProAlaLeuIleAlaAspLeuGluSerMetThrAlaAsnLeuThrHisLeuGluAlaSerPheGluGluValGluAsnAsnLeuLeuHisLeuGluAspLeuCysGlyGlnCysGluLeuGluArgCysLysHisMetGlnSerGlnGlnLeuGluAsnTyrLysLysAsnLysArgLysGluLeuGluThrPheLysAlaGluLeuAspAlaGluHisAlaGlnLysValLeuGluMetGluHisThrGlnGlnMetLysLeuLysGluArgGlnLysPhePheGluGluAlaPheGlnGlnAspMetGluGlnTyrLeuSerThrGlyTyrLeuGlnIleAlaGluArgArgGluProIleGlySerMetSerSerMetGluValAsnValAspMetLeuGluGlnMetAspLeuMetAspIleSerAspGlnGluAlaLeuAspValPheLeuAsnSerGlyGlyGluGluAsnThrValLeuSerProAlaLeuGlyProGluSerSerThrCysGlnAsnGluIleThrLeuGlnValProAsnProSerGluLeuArgAlaLysProProSerSerSerSerThrCysThrAspSerAlaThrArgAspIleSerGluGlyGlyGluSerProValValGlnSerAspGluGluGluValGlnValAspThrAlaLeuAlaThrSerHisThrAspArgGluAlaThrProAspGlyGlyGluAspSerAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715264" }, { "@id": "http://reg.genome.network/allele/PA916005058", "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "NM_001271668.2:c.256C>T" ], "proteinEffect": { "hgvs": "NP_001258597.1:p.Gln86Ter", "hgvsWellDefined": "NP_001258597.1:p.Gln86_Ser334delinsLeuProAlaLeuIleAlaAspLeuGluSerMetThrAlaAsnLeuThrHisLeuGluAlaSerPheGluGluValGluAsnAsnLeuLeuHisLeuGluAspLeuCysGlyGlnCysGluLeuGluArgCysLysHisMetGlnSerGlnGlnLeuGluAsnTyrLysLysAsnLysArgLysGluLeuGluThrPheLysAlaGluLeuAspAlaGluHisAlaGlnLysValLeuGluMetGluHisThrGlnGlnMetLysLeuLysGluArgGlnLysPhePheGluGluAlaPheGlnGlnAspMetGluGlnTyrLeuSerThrGlyTyrLeuGlnIleAlaGluArgArgGluProIleGlySerMetSerSerMetGluValAsnValAspMetLeuGluGlnMetAspLeuMetAspIleSerAspGlnGluAlaLeuAspValPheLeuAsnSerGlyGlyGluGluAsnThrValLeuSerProAlaLeuGlyProGluSerSerThrCysGlnAsnGluIleThrLeuGlnValProAsnProSerGluLeuArgAlaLysProProSerSerSerSerThrCysThrAspSerAlaThrArgAspIleSerGluGlyGlyGluSerProValValGlnSerAspGluGluGluValGlnValAspThrAlaLeuAlaThrSerHisThrAspArgGluAlaThrProAspGlyGlyGluAspSerAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715265" }, { "@id": "http://reg.genome.network/allele/PA2826530676", "coordinates": [ { "allele": "T", "end": 361, "referenceAllele": "C", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "NM_001271669.2:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001258598.1:p.Gln68Ter", "hgvsWellDefined": "NP_001258598.1:p.Gln68_Ser316delinsLeuProAlaLeuIleAlaAspLeuGluSerMetThrAlaAsnLeuThrHisLeuGluAlaSerPheGluGluValGluAsnAsnLeuLeuHisLeuGluAspLeuCysGlyGlnCysGluLeuGluArgCysLysHisMetGlnSerGlnGlnLeuGluAsnTyrLysLysAsnLysArgLysGluLeuGluThrPheLysAlaGluLeuAspAlaGluHisAlaGlnLysValLeuGluMetGluHisThrGlnGlnMetLysLeuLysGluArgGlnLysPhePheGluGluAlaPheGlnGlnAspMetGluGlnTyrLeuSerThrGlyTyrLeuGlnIleAlaGluArgArgGluProIleGlySerMetSerSerMetGluValAsnValAspMetLeuGluGlnMetAspLeuMetAspIleSerAspGlnGluAlaLeuAspValPheLeuAsnSerGlyGlyGluGluAsnThrValLeuSerProAlaLeuGlyProGluSerSerThrCysGlnAsnGluIleThrLeuGlnValProAsnProSerGluLeuArgAlaLysProProSerSerSerSerThrCysThrAspSerAlaThrArgAspIleSerGluGlyGlyGluSerProValValGlnSerAspGluGluGluValGlnValAspThrAlaLeuAlaThrSerHisThrAspArgGluAlaThrProAspGlyGlyGluAspSerAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715266" }, { "coordinates": [ { "allele": "T", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "NR_036448.3:n.605C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730330" } ], "type": "nucleotide" }