{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1246140159", "communityStandardTitle": [ "NM_005633.4(SOS1):c.1270G= (p.Glu424=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/730881041", "rs": 730881041 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 39023158, "referenceAllele": "C", "start": 39023157 } ], "hgvs": [ "NC_000002.12:g.39023158C=", "CM000664.2:g.39023158C=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 39250299, "referenceAllele": "C", "start": 39250298 } ], "hgvs": [ "NC_000002.11:g.39250299C=", "CM000664.1:g.39250299C=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 39103803, "referenceAllele": "C", "start": 39103802 } ], "hgvs": [ "NC_000002.10:g.39103803C=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "G", "end": 102306, "referenceAllele": "G", "start": 102305 } ], "hgvs": [ "NG_007530.1:g.102306G=", "LRG_754:g.102306G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000638" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1150, "referenceAllele": "G", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000472480.2:n.1150G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS825231" }, { "coordinates": [ { "allele": "G", "end": 104, "referenceAllele": "G", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000685279.1:c.37G=" ], "proteinEffect": { "hgvs": "ENSP00000509424.1:p.Glu13=" }, "referenceSequence": "http://reg.genome.network/refseq/RS829984" }, { "coordinates": [ { "allele": "G", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000688043.1:n.1491G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS831408" }, { "coordinates": [ { "allele": "G", "end": 1277, "referenceAllele": "G", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000689668.1:n.1277G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS832291" }, { "coordinates": [ { "allele": "G", "end": 1457, "referenceAllele": "G", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000690679.1:c.1457G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS832823" }, { "coordinates": [ { "allele": "G", "end": 1176, "referenceAllele": "G", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000690876.1:c.1159G=" ], "proteinEffect": { "hgvs": "ENSP00000508955.1:p.Glu387=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832921" }, { "coordinates": [ { "allele": "G", "end": 1176, "referenceAllele": "G", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000691229.1:c.1159G=" ], "proteinEffect": { "hgvs": "ENSP00000510437.1:p.Glu387=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833111" }, { "coordinates": [ { "allele": "G", "end": 1176, "referenceAllele": "G", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000692089.1:c.1159G=" ], "proteinEffect": { "hgvs": "ENSP00000508626.1:p.Glu387=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833539" }, { "coordinates": [ { "allele": "G", "end": 92, "referenceAllele": "G", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000692620.1:c.37G=" ], "proteinEffect": { "hgvs": "ENSP00000509311.1:p.Glu13=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833795" }, { "coordinates": [ { "allele": "G", "end": 1899, "referenceAllele": "G", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000402219.8:c.1270G=" ], "proteinEffect": { "hgvs": "ENSP00000384675.2:p.Glu424=" }, "referenceSequence": "http://reg.genome.network/refseq/RS753994", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402219.8:c.1270G=" }, "RefSeq": { "hgvs": "NM_005633.4:c.1270G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384675.2:p.Glu424=" }, "RefSeq": { "hgvs": "NP_005624.2:p.Glu424=" } } } }, { "coordinates": [ { "allele": "G", "end": 1298, "referenceAllele": "G", "start": 1297 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000395038.6:c.1270G=" ], "proteinEffect": { "hgvs": "ENSP00000378479.2:p.Glu424=" }, "referenceSequence": "http://reg.genome.network/refseq/RS276482" }, { "coordinates": [ { "allele": "G", "end": 1311, "referenceAllele": "G", "start": 1310 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000402219.6:c.1270G=" ], "proteinEffect": { "hgvs": "ENSP00000384675.2:p.Glu424=" }, "referenceSequence": "http://reg.genome.network/refseq/RS279442" }, { "coordinates": [ { "allele": "G", "end": 1357, "referenceAllele": "G", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000426016.5:c.1270G=" ], "proteinEffect": { "hgvs": "ENSP00000387784.1:p.Glu424=" }, "referenceSequence": "http://reg.genome.network/refseq/RS289025" }, { "coordinates": [ { "allele": "G", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000472480.1:n.114G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS314437" }, { "@id": "http://reg.genome.network/allele/PA3066722131", "coordinates": [ { "allele": "G", "end": 1311, "referenceAllele": "G", "start": 1310 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "NM_005633.3:c.1270G=", "LRG_754t1:c.1270G=" ], "proteinEffect": { "hgvs": "NP_005624.2:p.Glu424=" }, "referenceSequence": "http://reg.genome.network/refseq/RS030719" }, { "coordinates": [ { "allele": "G", "end": 1330, "referenceAllele": "G", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_005264515.3:c.1270G=" ], "proteinEffect": { "hgvs": "XP_005264572.1:p.Glu424=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064265" }, { "coordinates": [ { "allele": "G", "end": 1378, "referenceAllele": "G", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533060.1:c.1363G=" ], "proteinEffect": { "hgvs": "XP_011531362.1:p.Glu455=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100086" }, { "coordinates": [ { "allele": "G", "end": 1378, "referenceAllele": "G", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533061.1:c.1363G=" ], "proteinEffect": { "hgvs": "XP_011531363.1:p.Glu455=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100087" }, { "coordinates": [ { "allele": "G", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533062.1:c.1249G=" ], "proteinEffect": { "hgvs": "XP_011531364.1:p.Glu417=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100088" }, { "coordinates": [ { "allele": "G", "end": 1600, "referenceAllele": "G", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533063.1:c.1246G=" ], "proteinEffect": { "hgvs": "XP_011531365.1:p.Glu416=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100089" }, { "coordinates": [ { "allele": "G", "end": 1219, "referenceAllele": "G", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533064.1:c.1099G=" ], "proteinEffect": { "hgvs": "XP_011531366.1:p.Glu367=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100090" }, { "coordinates": [ { "allele": "G", "end": 1378, "referenceAllele": "G", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533065.1:c.1363G=" ], "proteinEffect": { "hgvs": "XP_011531367.1:p.Glu455=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100091" }, { "coordinates": [ { "allele": "G", "end": 220, "referenceAllele": "G", "start": 219 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533066.1:c.205G=" ], "proteinEffect": { "hgvs": "XP_011531368.1:p.Glu69=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100092" }, { "coordinates": [ { "allele": "G", "end": 1540, "referenceAllele": "G", "start": 1539 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_005264515.4:c.1270G=" ], "proteinEffect": { "hgvs": "XP_005264572.1:p.Glu424=" }, "referenceSequence": "http://reg.genome.network/refseq/RS535894" }, { "coordinates": [ { "allele": "G", "end": 1479, "referenceAllele": "G", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533062.2:c.1249G=" ], "proteinEffect": { "hgvs": "XP_011531364.1:p.Glu417=" }, "referenceSequence": "http://reg.genome.network/refseq/RS551097" }, { "coordinates": [ { "allele": "G", "end": 1219, "referenceAllele": "G", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533064.2:c.1099G=" ], "proteinEffect": { "hgvs": "XP_011531366.1:p.Glu367=" }, "referenceSequence": "http://reg.genome.network/refseq/RS551098" }, { "coordinates": [ { "allele": "G", "end": 1388, "referenceAllele": "G", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "NM_001382394.1:c.1249G=" ], "proteinEffect": { "hgvs": "NP_001369323.1:p.Glu417=" }, "referenceSequence": "http://reg.genome.network/refseq/RS722322" }, { "coordinates": [ { "allele": "G", "end": 1899, "referenceAllele": "G", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "NM_001382395.1:c.1270G=" ], "proteinEffect": { "hgvs": "NP_001369324.1:p.Glu424=" }, "referenceSequence": "http://reg.genome.network/refseq/RS722323" }, { "@id": "http://reg.genome.network/allele/PA3066722131", "coordinates": [ { "allele": "G", "end": 1899, "referenceAllele": "G", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "NM_005633.4:c.1270G=" ], "proteinEffect": { "hgvs": "NP_005624.2:p.Glu424=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727653", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402219.8:c.1270G=" }, "RefSeq": { "hgvs": "NM_005633.4:c.1270G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384675.2:p.Glu424=" }, "RefSeq": { "hgvs": "NP_005624.2:p.Glu424=" } } } } ], "type": "nucleotide" }