{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1246140918", "communityStandardTitle": [ "NM_005633.4(SOS1):c.1132A= (p.Thr378=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397517146", "rs": 397517146 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 39024080, "referenceAllele": "T", "start": 39024079 } ], "hgvs": [ "NC_000002.12:g.39024080T=", "CM000664.2:g.39024080T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 39251221, "referenceAllele": "T", "start": 39251220 } ], "hgvs": [ "NC_000002.11:g.39251221T=", "CM000664.1:g.39251221T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 39104725, "referenceAllele": "T", "start": 39104724 } ], "hgvs": [ "NC_000002.10:g.39104725T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 101384, "referenceAllele": "A", "start": 101383 } ], "hgvs": [ "NG_007530.1:g.101384A=", "LRG_754:g.101384A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000638" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1012, "referenceAllele": "A", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000472480.2:n.1012A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS825231" }, { "coordinates": [ { "allele": "A", "end": 1353, "referenceAllele": "A", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000688043.1:n.1353A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS831408" }, { "coordinates": [ { "allele": "A", "end": 1139, "referenceAllele": "A", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000689668.1:n.1139A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS832291" }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "A", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000690679.1:c.1319A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS832823" }, { "coordinates": [ { "allele": "A", "end": 1038, "referenceAllele": "A", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000690876.1:c.1021A=" ], "proteinEffect": { "hgvs": "ENSP00000508955.1:p.Thr341=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832921" }, { "coordinates": [ { "allele": "A", "end": 1038, "referenceAllele": "A", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000691229.1:c.1021A=" ], "proteinEffect": { "hgvs": "ENSP00000510437.1:p.Thr341=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833111" }, { "coordinates": [ { "allele": "A", "end": 1038, "referenceAllele": "A", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000692089.1:c.1021A=" ], "proteinEffect": { "hgvs": "ENSP00000508626.1:p.Thr341=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833539" }, { "coordinates": [ { "allele": "A", "end": 1761, "referenceAllele": "A", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000402219.8:c.1132A=" ], "proteinEffect": { "hgvs": "ENSP00000384675.2:p.Thr378=" }, "referenceSequence": "http://reg.genome.network/refseq/RS753994", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402219.8:c.1132A=" }, "RefSeq": { "hgvs": "NM_005633.4:c.1132A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384675.2:p.Thr378=" }, "RefSeq": { "hgvs": "NP_005624.2:p.Thr378=" } } } }, { "coordinates": [ { "allele": "A", "end": 1160, "referenceAllele": "A", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000395038.6:c.1132A=" ], "proteinEffect": { "hgvs": "ENSP00000378479.2:p.Thr378=" }, "referenceSequence": "http://reg.genome.network/refseq/RS276482" }, { "coordinates": [ { "allele": "A", "end": 1173, "referenceAllele": "A", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000402219.6:c.1132A=" ], "proteinEffect": { "hgvs": "ENSP00000384675.2:p.Thr378=" }, "referenceSequence": "http://reg.genome.network/refseq/RS279442" }, { "coordinates": [ { "allele": "A", "end": 1219, "referenceAllele": "A", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000426016.5:c.1132A=" ], "proteinEffect": { "hgvs": "ENSP00000387784.1:p.Thr378=" }, "referenceSequence": "http://reg.genome.network/refseq/RS289025" }, { "@id": "http://reg.genome.network/allele/PA2829609982", "coordinates": [ { "allele": "A", "end": 1173, "referenceAllele": "A", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "NM_005633.3:c.1132A=", "LRG_754t1:c.1132A=" ], "proteinEffect": { "hgvs": "NP_005624.2:p.Thr378=" }, "referenceSequence": "http://reg.genome.network/refseq/RS030719" }, { "coordinates": [ { "allele": "A", "end": 1192, "referenceAllele": "A", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_005264515.3:c.1132A=" ], "proteinEffect": { "hgvs": "XP_005264572.1:p.Thr378=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064265" }, { "coordinates": [ { "allele": "A", "end": 1240, "referenceAllele": "A", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533060.1:c.1225A=" ], "proteinEffect": { "hgvs": "XP_011531362.1:p.Thr409=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100086" }, { "coordinates": [ { "allele": "A", "end": 1240, "referenceAllele": "A", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533061.1:c.1225A=" ], "proteinEffect": { "hgvs": "XP_011531363.1:p.Thr409=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100087" }, { "coordinates": [ { "allele": "A", "end": 1126, "referenceAllele": "A", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533062.1:c.1111A=" ], "proteinEffect": { "hgvs": "XP_011531364.1:p.Thr371=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100088" }, { "coordinates": [ { "allele": "A", "end": 1462, "referenceAllele": "A", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533063.1:c.1108A=" ], "proteinEffect": { "hgvs": "XP_011531365.1:p.Thr370=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100089" }, { "coordinates": [ { "allele": "A", "end": 1081, "referenceAllele": "A", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533064.1:c.961A=" ], "proteinEffect": { "hgvs": "XP_011531366.1:p.Thr321=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100090" }, { "coordinates": [ { "allele": "A", "end": 1240, "referenceAllele": "A", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533065.1:c.1225A=" ], "proteinEffect": { "hgvs": "XP_011531367.1:p.Thr409=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100091" }, { "coordinates": [ { "allele": "A", "end": 82, "referenceAllele": "A", "start": 81 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533066.1:c.67A=" ], "proteinEffect": { "hgvs": "XP_011531368.1:p.Thr23=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100092" }, { "coordinates": [ { "allele": "A", "end": 1402, "referenceAllele": "A", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_005264515.4:c.1132A=" ], "proteinEffect": { "hgvs": "XP_005264572.1:p.Thr378=" }, "referenceSequence": "http://reg.genome.network/refseq/RS535894" }, { "coordinates": [ { "allele": "A", "end": 1341, "referenceAllele": "A", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533062.2:c.1111A=" ], "proteinEffect": { "hgvs": "XP_011531364.1:p.Thr371=" }, "referenceSequence": "http://reg.genome.network/refseq/RS551097" }, { "coordinates": [ { "allele": "A", "end": 1081, "referenceAllele": "A", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533064.2:c.961A=" ], "proteinEffect": { "hgvs": "XP_011531366.1:p.Thr321=" }, "referenceSequence": "http://reg.genome.network/refseq/RS551098" }, { "@id": "http://reg.genome.network/allele/PA2828893290", "coordinates": [ { "allele": "A", "end": 1250, "referenceAllele": "A", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "NM_001382394.1:c.1111A=" ], "proteinEffect": { "hgvs": "NP_001369323.1:p.Thr371=" }, "referenceSequence": "http://reg.genome.network/refseq/RS722322" }, { "@id": "http://reg.genome.network/allele/PA2828894475", "coordinates": [ { "allele": "A", "end": 1761, "referenceAllele": "A", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "NM_001382395.1:c.1132A=" ], "proteinEffect": { "hgvs": "NP_001369324.1:p.Thr378=" }, "referenceSequence": "http://reg.genome.network/refseq/RS722323" }, { "@id": "http://reg.genome.network/allele/PA2829609982", "coordinates": [ { "allele": "A", "end": 1761, "referenceAllele": "A", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "NM_005633.4:c.1132A=" ], "proteinEffect": { "hgvs": "NP_005624.2:p.Thr378=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727653", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402219.8:c.1132A=" }, "RefSeq": { "hgvs": "NM_005633.4:c.1132A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384675.2:p.Thr378=" }, "RefSeq": { "hgvs": "NP_005624.2:p.Thr378=" } } } } ], "type": "nucleotide" }