{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1246131381", "communityStandardTitle": [ "NM_005633.4(SOS1):c.2183A= (p.Lys728=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397517156", "rs": 397517156 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 39012333, "referenceAllele": "T", "start": 39012332 } ], "hgvs": [ "NC_000002.12:g.39012333T=", "CM000664.2:g.39012333T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 39239474, "referenceAllele": "T", "start": 39239473 } ], "hgvs": [ "NC_000002.11:g.39239474T=", "CM000664.1:g.39239474T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 39092978, "referenceAllele": "T", "start": 39092977 } ], "hgvs": [ "NC_000002.10:g.39092978T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 113131, "referenceAllele": "A", "start": 113130 } ], "hgvs": [ "NG_007530.1:g.113131A=", "LRG_754:g.113131A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000638" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1017, "referenceAllele": "A", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000685279.1:c.950A=" ], "proteinEffect": { "hgvs": "ENSP00000509424.1:p.Lys317=" }, "referenceSequence": "http://reg.genome.network/refseq/RS829984" }, { "coordinates": [ { "allele": "A", "end": 3515, "referenceAllele": "A", "start": 3514 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000688043.1:n.3515A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS831408" }, { "coordinates": [ { "allele": "A", "end": 2190, "referenceAllele": "A", "start": 2189 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000689668.1:n.2190A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS832291" }, { "coordinates": [ { "allele": "A", "end": 272, "referenceAllele": "A", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000690514.1:n.272A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS832737" }, { "coordinates": [ { "allele": "A", "end": 2089, "referenceAllele": "A", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000690876.1:c.2072A=" ], "proteinEffect": { "hgvs": "ENSP00000508955.1:p.Lys691=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832921" }, { "coordinates": [ { "allele": "A", "end": 2089, "referenceAllele": "A", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000691229.1:c.2072A=" ], "proteinEffect": { "hgvs": "ENSP00000510437.1:p.Lys691=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833111" }, { "coordinates": [ { "allele": "A", "end": 2089, "referenceAllele": "A", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000692089.1:c.2072A=" ], "proteinEffect": { "hgvs": "ENSP00000508626.1:p.Lys691=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833539" }, { "coordinates": [ { "allele": "A", "end": 989, "endIntronDirection": "+", "endIntronOffset": 1127, "referenceAllele": "A", "start": 989, "startIntronDirection": "+", "startIntronOffset": 1126 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000692620.1:c.934+1127A=" ], "proteinEffect": { "hgvs": "ENSP00000509311.1:n.934+1127A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833795" }, { "coordinates": [ { "allele": "A", "end": 2812, "referenceAllele": "A", "start": 2811 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000402219.8:c.2183A=" ], "proteinEffect": { "hgvs": "ENSP00000384675.2:p.Lys728=" }, "referenceSequence": "http://reg.genome.network/refseq/RS753994", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402219.8:c.2183A=" }, "RefSeq": { "hgvs": "NM_005633.4:c.2183A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384675.2:p.Lys728=" }, "RefSeq": { "hgvs": "NP_005624.2:p.Lys728=" } } } }, { "coordinates": [ { "allele": "A", "end": 2211, "referenceAllele": "A", "start": 2210 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000395038.6:c.2183A=" ], "proteinEffect": { "hgvs": "ENSP00000378479.2:p.Lys728=" }, "referenceSequence": "http://reg.genome.network/refseq/RS276482" }, { "coordinates": [ { "allele": "A", "end": 2224, "referenceAllele": "A", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000402219.6:c.2183A=" ], "proteinEffect": { "hgvs": "ENSP00000384675.2:p.Lys728=" }, "referenceSequence": "http://reg.genome.network/refseq/RS279442" }, { "coordinates": [ { "allele": "A", "end": 2270, "referenceAllele": "A", "start": 2269 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "ENST00000426016.5:c.2183A=" ], "proteinEffect": { "hgvs": "ENSP00000387784.1:p.Lys728=" }, "referenceSequence": "http://reg.genome.network/refseq/RS289025" }, { "@id": "http://reg.genome.network/allele/PA3066671643", "coordinates": [ { "allele": "A", "end": 2224, "referenceAllele": "A", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "NM_005633.3:c.2183A=", "LRG_754t1:c.2183A=" ], "proteinEffect": { "hgvs": "NP_005624.2:p.Lys728=" }, "referenceSequence": "http://reg.genome.network/refseq/RS030719" }, { "coordinates": [ { "allele": "A", "end": 2243, "referenceAllele": "A", "start": 2242 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_005264515.3:c.2183A=" ], "proteinEffect": { "hgvs": "XP_005264572.1:p.Lys728=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064265" }, { "coordinates": [ { "allele": "A", "end": 2291, "referenceAllele": "A", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533060.1:c.2276A=" ], "proteinEffect": { "hgvs": "XP_011531362.1:p.Lys759=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100086" }, { "coordinates": [ { "allele": "A", "end": 2291, "referenceAllele": "A", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533061.1:c.2276A=" ], "proteinEffect": { "hgvs": "XP_011531363.1:p.Lys759=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100087" }, { "coordinates": [ { "allele": "A", "end": 2177, "referenceAllele": "A", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533062.1:c.2162A=" ], "proteinEffect": { "hgvs": "XP_011531364.1:p.Lys721=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100088" }, { "coordinates": [ { "allele": "A", "end": 2513, "referenceAllele": "A", "start": 2512 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533063.1:c.2159A=" ], "proteinEffect": { "hgvs": "XP_011531365.1:p.Lys720=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100089" }, { "coordinates": [ { "allele": "A", "end": 2132, "referenceAllele": "A", "start": 2131 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533064.1:c.2012A=" ], "proteinEffect": { "hgvs": "XP_011531366.1:p.Lys671=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100090" }, { "coordinates": [ { "allele": "A", "end": 2291, "referenceAllele": "A", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533065.1:c.2276A=" ], "proteinEffect": { "hgvs": "XP_011531367.1:p.Lys759=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100091" }, { "coordinates": [ { "allele": "A", "end": 1133, "referenceAllele": "A", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533066.1:c.1118A=" ], "proteinEffect": { "hgvs": "XP_011531368.1:p.Lys373=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100092" }, { "coordinates": [ { "allele": "A", "end": 2453, "referenceAllele": "A", "start": 2452 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_005264515.4:c.2183A=" ], "proteinEffect": { "hgvs": "XP_005264572.1:p.Lys728=" }, "referenceSequence": "http://reg.genome.network/refseq/RS535894" }, { "coordinates": [ { "allele": "A", "end": 2392, "referenceAllele": "A", "start": 2391 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533062.2:c.2162A=" ], "proteinEffect": { "hgvs": "XP_011531364.1:p.Lys721=" }, "referenceSequence": "http://reg.genome.network/refseq/RS551097" }, { "coordinates": [ { "allele": "A", "end": 2132, "referenceAllele": "A", "start": 2131 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "XM_011533064.2:c.2012A=" ], "proteinEffect": { "hgvs": "XP_011531366.1:p.Lys671=" }, "referenceSequence": "http://reg.genome.network/refseq/RS551098" }, { "coordinates": [ { "allele": "A", "end": 2301, "referenceAllele": "A", "start": 2300 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "NM_001382394.1:c.2162A=" ], "proteinEffect": { "hgvs": "NP_001369323.1:p.Lys721=" }, "referenceSequence": "http://reg.genome.network/refseq/RS722322" }, { "coordinates": [ { "allele": "A", "end": 2812, "referenceAllele": "A", "start": 2811 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "NM_001382395.1:c.2183A=" ], "proteinEffect": { "hgvs": "NP_001369324.1:p.Lys728=" }, "referenceSequence": "http://reg.genome.network/refseq/RS722323" }, { "@id": "http://reg.genome.network/allele/PA3066671643", "coordinates": [ { "allele": "A", "end": 2812, "referenceAllele": "A", "start": 2811 } ], "gene": "http://reg.genome.network/gene/GN011187", "geneNCBI_id": 6654, "geneSymbol": "SOS1", "hgvs": [ "NM_005633.4:c.2183A=" ], "proteinEffect": { "hgvs": "NP_005624.2:p.Lys728=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727653", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402219.8:c.2183A=" }, "RefSeq": { "hgvs": "NM_005633.4:c.2183A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384675.2:p.Lys728=" }, "RefSeq": { "hgvs": "NP_005624.2:p.Lys728=" } } } } ], "type": "nucleotide" }