{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA402460857", "communityStandardTitle": [ "NM_005359.6(SMAD4):c.533C>A (p.Ser178Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1226725", "active": true, "id": "COSM1226725" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=846908[alleleid]", "alleleId": 846908, "preferredName": "NM_005359.6(SMAD4):c.533C>A (p.Ser178Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/836290", "RCV": [ "RCV001037387", "RCV004031028" ], "variationId": 836290 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.48581229C>A?assembly=hg19", "id": "chr18:g.48581229C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.51054859C>A?assembly=hg38", "id": "chr18:g.51054859C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/377767331", "rs": 377767331 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 51054859, "referenceAllele": "C", "start": 51054858 } ], "hgvs": [ "NC_000018.10:g.51054859C>A", "CM000680.2:g.51054859C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 48581229, "referenceAllele": "C", "start": 48581228 } ], "hgvs": [ "NC_000018.9:g.48581229C>A", "CM000680.1:g.48581229C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 46835227, "referenceAllele": "C", "start": 46835226 } ], "hgvs": [ "NC_000018.8:g.46835227C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "A", "end": 91820, "referenceAllele": "C", "start": 91819 } ], "hgvs": [ "NG_013013.2:g.91820C>A", "LRG_318:g.91820C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002660" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 798, "referenceAllele": "C", "start": 797 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000588860.6:c.533C>A" ], "proteinEffect": { "hgvs": "ENSP00000465878.2:p.Ser178Ter", "hgvsWellDefined": "ENSP00000465878.2:p.Ser178_Asp552delinsIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914337" }, { "coordinates": [ { "allele": "A", "end": 837, "referenceAllele": "C", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000589076.6:c.533C>A" ], "proteinEffect": { "hgvs": "ENSP00000466934.2:p.Ser178Ter", "hgvsWellDefined": "ENSP00000466934.2:p.Ser178_Asp552delinsIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914338" }, { "coordinates": [ { "allele": "A", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000589941.2:c.533C>A" ], "proteinEffect": { "hgvs": "ENSP00000465874.2:p.Ser178Ter", "hgvsWellDefined": "ENSP00000465874.2:p.Ser178_Asp552delinsIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914340" }, { "coordinates": [ { "allele": "A", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000590061.2:c.533C>A" ], "proteinEffect": { "hgvs": "ENSP00000464772.2:p.Ser178Ter", "hgvsWellDefined": "ENSP00000464772.2:p.Ser178_Asp552delinsIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914342" }, { "coordinates": [ { "allele": "A", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000593223.2:c.533C>A" ], "proteinEffect": { "hgvs": "ENSP00000466118.2:p.Ser178Ter", "hgvsWellDefined": "ENSP00000466118.2:p.Ser178_Val493delinsIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLysTyrAlaPheHisSerPheLeuLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914349" }, { "coordinates": [ { "allele": "A", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000611848.2:c.533C>A" ], "proteinEffect": { "hgvs": "ENSP00000478613.2:p.Ser178Ter", "hgvsWellDefined": "ENSP00000478613.2:p.Ser178_Ser486delinsIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleLysLeuAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826412" }, { "coordinates": [ { "allele": "A", "end": 1905, "referenceAllele": "C", "start": 1904 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000684953.1:n.1905C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829809" }, { "coordinates": [ { "allele": "A", "end": 21, "referenceAllele": "C", "start": 20 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000688307.1:n.21C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831552" }, { "coordinates": [ { "allele": "A", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000342988.8:c.533C>A" ], "proteinEffect": { "hgvs": "ENSP00000341551.3:p.Ser178Ter", "hgvsWellDefined": "ENSP00000341551.3:p.Ser178_Asp552delinsIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748110", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342988.8:c.533C>A" }, "RefSeq": { "hgvs": "NM_005359.6:c.533C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341551.3:p.Ser178Ter" }, "RefSeq": { "hgvs": "NP_005350.1:p.Ser178Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000342988.7:c.533C>A" ], "proteinEffect": { "hgvs": "ENSP00000341551.3:p.Ser178Ter", "hgvsWellDefined": "ENSP00000341551.3:p.Ser178_Asp552delinsIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261669" }, { "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000398417.6:c.533C>A" ], "proteinEffect": { "hgvs": "ENSP00000381452.1:p.Ser178Ter", "hgvsWellDefined": "ENSP00000381452.1:p.Ser178_Asp552delinsIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278258" }, { "coordinates": [ { "allele": "A", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000585448.1:n.402C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS388729" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000588745.5:c.533C>A" ], "proteinEffect": { "hgvs": "ENSP00000464901.1:p.Ser178Ter", "hgvsWellDefined": "ENSP00000464901.1:p.Ser178_Asp456delinsIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrThrProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS390999" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "hgvs": [ "ENST00000590722.2:c.*709C>A" ], "proteinEffect": { "hgvs": "ENSP00000465737.1:n.*709C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS392392" }, { "coordinates": [ { "allele": "A", "end": 2534, "referenceAllele": "C", "start": 2533 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000591126.5:n.2534C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS392668" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000592186.5:c.533C>A" ], "proteinEffect": { "hgvs": "ENSP00000468611.1:p.Ser178Ter", "hgvsWellDefined": "ENSP00000468611.1:p.Ser178_Leu320delinsIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS393389" }, { "coordinates": [ { "allele": "A", "end": 311, "referenceAllele": "C", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000592911.5:n.311C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS393890" }, { "@id": "http://reg.genome.network/allele/PA259182", "coordinates": [ { "allele": "A", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "NM_005359.5:c.533C>A", "LRG_318t1:c.533C>A" ], "proteinEffect": { "hgvs": "NP_005350.1:p.Ser178Ter", "hgvsWellDefined": "NP_005350.1:p.Ser178_Asp552delinsIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030461" }, { "@id": "http://reg.genome.network/allele/PA259182", "coordinates": [ { "allele": "A", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "NM_005359.6:c.533C>A" ], "proteinEffect": { "hgvs": "NP_005350.1:p.Ser178Ter", "hgvsWellDefined": "NP_005350.1:p.Ser178_Asp552delinsIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696402", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342988.8:c.533C>A" }, "RefSeq": { "hgvs": "NM_005359.6:c.533C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341551.3:p.Ser178Ter" }, "RefSeq": { "hgvs": "NP_005350.1:p.Ser178Ter" } } } } ], "type": "nucleotide" }