{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344790", "communityStandardTitle": [ "NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71465[alleleid]", "alleleId": 71465, "preferredName": "NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56847", "RCV": [ "RCV000050234", "RCV003764724" ], "variationId": 56847 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2546617C>A?assembly=hg19", "id": "chr16:g.2546617C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2496616C>A?assembly=hg38", "id": "chr16:g.2496616C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397514714", "rs": 397514714 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2496616-C-A?dataset=gnomad_r3", "id": "16-2496616-C-A", "variant": "16:2496616 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2496616-C-A?dataset=gnomad_r4", "id": "16-2496616-C-A", "variant": "16:2496616 C / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2496616, "referenceAllele": "C", "start": 2496615 } ], "hgvs": [ "NC_000016.10:g.2496616C>A", "CM000678.2:g.2496616C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2546617, "referenceAllele": "C", "start": 2546616 } ], "hgvs": [ "NC_000016.9:g.2546617C>A", "CM000678.1:g.2546617C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2486618, "referenceAllele": "C", "start": 2486617 } ], "hgvs": [ "NC_000016.8:g.2486618C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 26471, "referenceAllele": "C", "start": 26470 } ], "hgvs": [ "NG_028170.1:g.26471C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004116" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 651, "referenceAllele": "C", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "ENST00000562105.2:c.468C>A" ], "proteinEffect": { "hgvs": "ENSP00000457896.2:p.Cys156Ter", "hgvsWellDefined": "ENSP00000457896.2:p.Cys156_Pro456del" }, "referenceSequence": "http://reg.genome.network/refseq/RS760346" }, { "coordinates": [ { "allele": "A", "end": 703, "referenceAllele": "C", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "ENST00000567020.6:c.468C>A" ], "proteinEffect": { "hgvs": "ENSP00000454408.1:p.Cys156Ter", "hgvsWellDefined": "ENSP00000454408.1:p.Cys156_Gln553delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760510" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "ENST00000569874.2:c.468C>A" ], "proteinEffect": { "hgvs": "ENSP00000455005.2:p.Cys156Ter", "hgvsWellDefined": "ENSP00000455005.2:p.Cys156_Gln553delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760613" }, { "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "C", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "ENST00000643767.1:c.468C>A" ], "proteinEffect": { "hgvs": "ENSP00000494145.1:p.Cys156Ter", "hgvsWellDefined": "ENSP00000494145.1:p.Cys156_Ala465del" }, "referenceSequence": "http://reg.genome.network/refseq/RS767458" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "ENST00000646147.1:c.468C>A" ], "proteinEffect": { "hgvs": "ENSP00000494678.1:p.Cys156Ter", "hgvsWellDefined": "ENSP00000494678.1:p.Cys156_Gln559delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysSerValSerLeuSerLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768725", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000646147.1:c.468C>A" }, "RefSeq": { "hgvs": "NM_001199107.2:c.468C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494678.1:p.Cys156Ter" }, "RefSeq": { "hgvs": "NP_001186036.1:p.Cys156Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 601, "referenceAllele": "C", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "ENST00000293970.9:c.468C>A" ], "proteinEffect": { "hgvs": "ENSP00000293970.5:p.Cys156Ter", "hgvsWellDefined": "ENSP00000293970.5:p.Cys156_Gln559delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysSerValSerLeuSerLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253932" }, { "coordinates": [ { "allele": "A", "end": 585, "referenceAllele": "C", "start": 584 } ], "hgvs": [ "ENST00000564543.1:c.468C>A" ], "proteinEffect": { "hgvs": "ENSP00000455547.1:p.Cys156Ter", "hgvsWellDefined": "ENSP00000455547.1:p.Cys156_Glu376delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysSerProGlyArgCysLeuTrpHisSerGlnGluArgTyrArgHisCysGlyHisValCysHisAlaAlaGlyAlaAspHisGluValHisHisProSerGlyHisGlyTrpHisHisArgHisLeuArgProGlyGlyGlySerProHisArgGlnLeuProGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS378154" }, { "coordinates": [ { "allele": "A", "end": 608, "referenceAllele": "C", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "ENST00000567020.5:c.468C>A" ], "proteinEffect": { "hgvs": "ENSP00000454408.1:p.Cys156Ter", "hgvsWellDefined": "ENSP00000454408.1:p.Cys156_Gln553delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379836" }, { "coordinates": [ { "allele": "A", "end": 693, "referenceAllele": "C", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "ENST00000627285.1:c.468C>A" ], "proteinEffect": { "hgvs": "ENSP00000486121.1:p.Cys156Ter", "hgvsWellDefined": "ENSP00000486121.1:p.Cys156_Gln553delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406865" }, { "coordinates": [ { "allele": "A", "end": 662, "referenceAllele": "C", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "ENST00000630263.2:c.468C>A" ], "proteinEffect": { "hgvs": "ENSP00000486835.1:p.Cys156Ter", "hgvsWellDefined": "ENSP00000486835.1:p.Cys156_Ala339delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysSerLeuTyrThrTrpProSerMetGlnArgThrSerAlaArgArgSerSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407342" }, { "@id": "http://reg.genome.network/allele/PA344791", "coordinates": [ { "allele": "A", "end": 608, "referenceAllele": "C", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "NM_001199107.1:c.468C>A" ], "proteinEffect": { "hgvs": "NP_001186036.1:p.Cys156Ter", "hgvsWellDefined": "NP_001186036.1:p.Cys156_Gln559delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysSerValSerLeuSerLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016986" }, { "@id": "http://reg.genome.network/allele/PA916076366", "coordinates": [ { "allele": "A", "end": 608, "referenceAllele": "C", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "NM_020705.2:c.468C>A" ], "proteinEffect": { "hgvs": "NP_065756.1:p.Cys156Ter", "hgvsWellDefined": "NP_065756.1:p.Cys156_Gln553delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036515" }, { "coordinates": [ { "allele": "A", "end": 650, "referenceAllele": "C", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "XM_017023493.1:c.468C>A" ], "proteinEffect": { "hgvs": "XP_016878982.1:p.Cys156Ter", "hgvsWellDefined": "XP_016878982.1:p.Cys156_Gln559delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysSerValSerLeuSerLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574249" }, { "coordinates": [ { "allele": "A", "end": 738, "referenceAllele": "C", "start": 737 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "XM_017023494.1:c.468C>A" ], "proteinEffect": { "hgvs": "XP_016878983.1:p.Cys156Ter", "hgvsWellDefined": "XP_016878983.1:p.Cys156_Gln553delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574250" }, { "coordinates": [ { "allele": "A", "end": 650, "referenceAllele": "C", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "XM_017023495.1:c.468C>A" ], "proteinEffect": { "hgvs": "XP_016878984.1:p.Cys156Ter", "hgvsWellDefined": "XP_016878984.1:p.Cys156_Gln553delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574251" }, { "coordinates": [ { "allele": "A", "end": 650, "referenceAllele": "C", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "XR_001751956.1:n.650C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598735" }, { "@id": "http://reg.genome.network/allele/PA344791", "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "NM_001199107.2:c.468C>A" ], "proteinEffect": { "hgvs": "NP_001186036.1:p.Cys156Ter", "hgvsWellDefined": "NP_001186036.1:p.Cys156_Gln559delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysSerValSerLeuSerLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679497", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000646147.1:c.468C>A" }, "RefSeq": { "hgvs": "NM_001199107.2:c.468C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494678.1:p.Cys156Ter" }, "RefSeq": { "hgvs": "NP_001186036.1:p.Cys156Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916076366", "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN029203", "geneNCBI_id": 57465, "geneSymbol": "TBC1D24", "hgvs": [ "NM_020705.3:c.468C>A" ], "proteinEffect": { "hgvs": "NP_065756.1:p.Cys156Ter", "hgvsWellDefined": "NP_065756.1:p.Cys156_Gln553delinsArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698270" } ], "type": "nucleotide" }