{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA365441006", "communityStandardTitle": [ "NM_001378902.1(ROS1):c.6058C>A (p.Leu2020Met)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.117638365G>T?assembly=hg19", "id": "chr6:g.117638365G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.117317202G>T?assembly=hg38", "id": "chr6:g.117317202G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2128555610", "rs": 2128555610 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 117317202, "referenceAllele": "G", "start": 117317201 } ], "hgvs": [ "NC_000006.12:g.117317202G>T", "CM000668.2:g.117317202G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 117638365, "referenceAllele": "G", "start": 117638364 } ], "hgvs": [ "NC_000006.11:g.117638365G>T", "CM000668.1:g.117638365G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 117745058, "referenceAllele": "G", "start": 117745057 } ], "hgvs": [ "NC_000006.10:g.117745058G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 113654, "referenceAllele": "C", "start": 113653 } ], "hgvs": [ "NG_033929.1:g.113654C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005604" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 6344, "referenceAllele": "C", "start": 6343 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "ENST00000368507.8:c.6058C>A" ], "proteinEffect": { "hgvs": "ENSP00000357493.3:p.Leu2020Met", "hgvsWellDefined": "ENSP00000357493.3:p.Leu2020Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS750223", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368507.8:c.6058C>A" }, "RefSeq": { "hgvs": "NM_001378902.1:c.6058C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357493.3:p.Leu2020Met" }, "RefSeq": { "hgvs": "NP_001365831.1:p.Leu2020Met" } } } }, { "coordinates": [ { "allele": "A", "end": 6257, "referenceAllele": "C", "start": 6256 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "ENST00000368507.7:c.6058C>A" ], "proteinEffect": { "hgvs": "ENSP00000357493.3:p.Leu2020Met", "hgvsWellDefined": "ENSP00000357493.3:p.Leu2020Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS267008" }, { "coordinates": [ { "allele": "A", "end": 6275, "referenceAllele": "C", "start": 6274 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "ENST00000368508.7:c.6076C>A" ], "proteinEffect": { "hgvs": "ENSP00000357494.3:p.Leu2026Met", "hgvsWellDefined": "ENSP00000357494.3:p.Leu2026Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS267009" }, { "@id": "http://reg.genome.network/allele/PA3073134533", "coordinates": [ { "allele": "A", "end": 6275, "referenceAllele": "C", "start": 6274 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "NM_002944.2:c.6076C>A" ], "proteinEffect": { "hgvs": "NP_002935.2:p.Leu2026Met", "hgvsWellDefined": "NP_002935.2:p.Leu2026Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS028228" }, { "coordinates": [ { "allele": "A", "end": 6323, "referenceAllele": "C", "start": 6322 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_006715548.2:c.6061C>A" ], "proteinEffect": { "hgvs": "XP_006715611.1:p.Leu2021Met", "hgvsWellDefined": "XP_006715611.1:p.Leu2021Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS071212" }, { "coordinates": [ { "allele": "A", "end": 6368, "referenceAllele": "C", "start": 6367 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_011536049.1:c.6106C>A" ], "proteinEffect": { "hgvs": "XP_011534351.1:p.Leu2036Met", "hgvsWellDefined": "XP_011534351.1:p.Leu2036Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS103051" }, { "coordinates": [ { "allele": "A", "end": 6365, "referenceAllele": "C", "start": 6364 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_011536050.1:c.6103C>A" ], "proteinEffect": { "hgvs": "XP_011534352.1:p.Leu2035Met", "hgvsWellDefined": "XP_011534352.1:p.Leu2035Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS103052" }, { "coordinates": [ { "allele": "A", "end": 6341, "referenceAllele": "C", "start": 6340 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_011536051.1:c.6079C>A" ], "proteinEffect": { "hgvs": "XP_011534353.1:p.Leu2027Met", "hgvsWellDefined": "XP_011534353.1:p.Leu2027Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS103053" }, { "coordinates": [ { "allele": "A", "end": 6326, "referenceAllele": "C", "start": 6325 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_011536052.1:c.6064C>A" ], "proteinEffect": { "hgvs": "XP_011534354.1:p.Leu2022Met", "hgvsWellDefined": "XP_011534354.1:p.Leu2022Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS103054" }, { "coordinates": [ { "allele": "A", "end": 6194, "referenceAllele": "C", "start": 6193 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_011536053.1:c.5932C>A" ], "proteinEffect": { "hgvs": "XP_011534355.1:p.Leu1978Met", "hgvsWellDefined": "XP_011534355.1:p.Leu1978Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS103055" }, { "coordinates": [ { "allele": "A", "end": 6370, "referenceAllele": "C", "start": 6369 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_011536054.1:c.6106C>A" ], "proteinEffect": { "hgvs": "XP_011534356.1:p.Leu2036Met", "hgvsWellDefined": "XP_011534356.1:p.Leu2036Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS103056" }, { "coordinates": [ { "allele": "A", "end": 6368, "referenceAllele": "C", "start": 6367 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_006715548.4:c.6061C>A" ], "proteinEffect": { "hgvs": "XP_006715611.1:p.Leu2021Met", "hgvsWellDefined": "XP_006715611.1:p.Leu2021Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS538955" }, { "coordinates": [ { "allele": "A", "end": 6413, "referenceAllele": "C", "start": 6412 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_011536049.2:c.6106C>A" ], "proteinEffect": { "hgvs": "XP_011534351.1:p.Leu2036Met", "hgvsWellDefined": "XP_011534351.1:p.Leu2036Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS552305" }, { "coordinates": [ { "allele": "A", "end": 6410, "referenceAllele": "C", "start": 6409 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_011536050.2:c.6103C>A" ], "proteinEffect": { "hgvs": "XP_011534352.1:p.Leu2035Met", "hgvsWellDefined": "XP_011534352.1:p.Leu2035Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS552306" }, { "coordinates": [ { "allele": "A", "end": 6386, "referenceAllele": "C", "start": 6385 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_011536051.2:c.6079C>A" ], "proteinEffect": { "hgvs": "XP_011534353.1:p.Leu2027Met", "hgvsWellDefined": "XP_011534353.1:p.Leu2027Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS552307" }, { "coordinates": [ { "allele": "A", "end": 6371, "referenceAllele": "C", "start": 6370 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_011536052.2:c.6064C>A" ], "proteinEffect": { "hgvs": "XP_011534354.1:p.Leu2022Met", "hgvsWellDefined": "XP_011534354.1:p.Leu2022Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS552308" }, { "coordinates": [ { "allele": "A", "end": 6239, "referenceAllele": "C", "start": 6238 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_011536053.2:c.5932C>A" ], "proteinEffect": { "hgvs": "XP_011534355.1:p.Leu1978Met", "hgvsWellDefined": "XP_011534355.1:p.Leu1978Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS552309" }, { "coordinates": [ { "allele": "A", "end": 6414, "referenceAllele": "C", "start": 6413 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_011536054.2:c.6106C>A" ], "proteinEffect": { "hgvs": "XP_011534356.1:p.Leu2036Met", "hgvsWellDefined": "XP_011534356.1:p.Leu2036Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS552310" }, { "coordinates": [ { "allele": "A", "end": 6344, "referenceAllele": "C", "start": 6343 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_017011172.1:c.6037C>A" ], "proteinEffect": { "hgvs": "XP_016866661.1:p.Leu2013Met", "hgvsWellDefined": "XP_016866661.1:p.Leu2013Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS565057" }, { "coordinates": [ { "allele": "A", "end": 6443, "referenceAllele": "C", "start": 6442 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "XM_017011173.1:c.6034C>A" ], "proteinEffect": { "hgvs": "XP_016866662.1:p.Leu2012Met", "hgvsWellDefined": "XP_016866662.1:p.Leu2012Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS565058" }, { "coordinates": [ { "allele": "A", "end": 6350, "referenceAllele": "C", "start": 6349 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "NM_001378891.1:c.6064C>A" ], "proteinEffect": { "hgvs": "NP_001365820.1:p.Leu2022Met", "hgvsWellDefined": "NP_001365820.1:p.Leu2022Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS721857" }, { "coordinates": [ { "allele": "A", "end": 6344, "referenceAllele": "C", "start": 6343 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "NM_001378902.1:c.6058C>A" ], "proteinEffect": { "hgvs": "NP_001365831.1:p.Leu2020Met", "hgvsWellDefined": "NP_001365831.1:p.Leu2020Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS721858", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368507.8:c.6058C>A" }, "RefSeq": { "hgvs": "NM_001378902.1:c.6058C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357493.3:p.Leu2020Met" }, "RefSeq": { "hgvs": "NP_001365831.1:p.Leu2020Met" } } } }, { "@id": "http://reg.genome.network/allele/PA3073134533", "coordinates": [ { "allele": "A", "end": 6362, "referenceAllele": "C", "start": 6361 } ], "gene": "http://reg.genome.network/gene/GN010261", "geneNCBI_id": 6098, "geneSymbol": "ROS1", "hgvs": [ "NM_002944.3:c.6076C>A" ], "proteinEffect": { "hgvs": "NP_002935.2:p.Leu2026Met", "hgvsWellDefined": "NP_002935.2:p.Leu2026Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS727338" } ], "type": "nucleotide" }