{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA410203461", "communityStandardTitle": [ "NM_001754.5(RUNX1):c.323G>C (p.Cys108Ser)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.36259168C>G?assembly=hg19", "id": "chr21:g.36259168C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.34886871C>G?assembly=hg38", "id": "chr21:g.34886871C>G" } ] }, "genomicAlleles": [ { "chromosome": "21", "coordinates": [ { "allele": "G", "end": 34886871, "referenceAllele": "C", "start": 34886870 } ], "hgvs": [ "NC_000021.9:g.34886871C>G", "CM000683.2:g.34886871C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000069" }, { "chromosome": "21", "coordinates": [ { "allele": "G", "end": 36259168, "referenceAllele": "C", "start": 36259167 } ], "hgvs": [ "NC_000021.8:g.36259168C>G", "CM000683.1:g.36259168C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000045" }, { "chromosome": "21", "coordinates": [ { "allele": "G", "end": 35181038, "referenceAllele": "C", "start": 35181037 } ], "hgvs": [ "NC_000021.7:g.35181038C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000021" }, { "coordinates": [ { "allele": "C", "end": 1102841, "referenceAllele": "G", "start": 1102840 } ], "hgvs": [ "NG_011402.2:g.1102841G>C", "LRG_482:g.1102841G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001708" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 517, "referenceAllele": "G", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "ENST00000675419.1:c.323G>C" ], "proteinEffect": { "hgvs": "ENSP00000501943.1:p.Cys108Ser", "hgvsWellDefined": "ENSP00000501943.1:p.Cys108Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775244", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675419.1:c.323G>C" }, "RefSeq": { "hgvs": "NM_001754.5:c.323G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501943.1:p.Cys108Ser" }, "RefSeq": { "hgvs": "NP_001745.2:p.Cys108Ser" } } } }, { "coordinates": [ { "allele": "C", "end": 768, "referenceAllele": "G", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "ENST00000300305.7:c.323G>C" ], "proteinEffect": { "hgvs": "ENSP00000300305.3:p.Cys108Ser", "hgvsWellDefined": "ENSP00000300305.3:p.Cys108Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS254867" }, { "coordinates": [ { "allele": "C", "end": 1820, "referenceAllele": "G", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "ENST00000344691.8:c.242G>C" ], "proteinEffect": { "hgvs": "ENSP00000340690.4:p.Cys81Ser", "hgvsWellDefined": "ENSP00000340690.4:p.Cys81Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS262031" }, { "coordinates": [ { "allele": "C", "end": 1820, "referenceAllele": "G", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "ENST00000358356.9:c.242G>C" ], "proteinEffect": { "hgvs": "ENSP00000351123.5:p.Cys81Ser", "hgvsWellDefined": "ENSP00000351123.5:p.Cys81Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS264416" }, { "coordinates": [ { "allele": "C", "end": 340, "referenceAllele": "G", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "ENST00000399237.6:c.287G>C" ], "proteinEffect": { "hgvs": "ENSP00000382182.2:p.Cys96Ser", "hgvsWellDefined": "ENSP00000382182.2:p.Cys96Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS278608" }, { "coordinates": [ { "allele": "C", "end": 313, "referenceAllele": "G", "start": 312 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "ENST00000399240.5:c.242G>C" ], "proteinEffect": { "hgvs": "ENSP00000382184.1:p.Cys81Ser", "hgvsWellDefined": "ENSP00000382184.1:p.Cys81Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS278609" }, { "coordinates": [ { "allele": "C", "end": 513, "referenceAllele": "G", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "ENST00000437180.5:c.323G>C" ], "proteinEffect": { "hgvs": "ENSP00000409227.1:p.Cys108Ser", "hgvsWellDefined": "ENSP00000409227.1:p.Cys108Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS294340" }, { "coordinates": [ { "allele": "C", "end": 474, "referenceAllele": "G", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "ENST00000455571.5:c.284G>C" ], "proteinEffect": { "hgvs": "ENSP00000388189.1:p.Cys95Ser", "hgvsWellDefined": "ENSP00000388189.1:p.Cys95Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS303112" }, { "coordinates": [ { "allele": "C", "end": 238, "endIntronDirection": "-", "endIntronOffset": 6157, "referenceAllele": "G", "start": 238, "startIntronDirection": "-", "startIntronOffset": 6158 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "ENST00000482318.5:c.59-6158G>C" ], "proteinEffect": { "hgvs": "ENSP00000477067.1:n.59-6158G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS322047" }, { "@id": "http://reg.genome.network/allele/PA2825237027", "coordinates": [ { "allele": "C", "end": 1820, "referenceAllele": "G", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "NM_001001890.2:c.242G>C" ], "proteinEffect": { "hgvs": "NP_001001890.1:p.Cys81Ser", "hgvsWellDefined": "NP_001001890.1:p.Cys81Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS007158" }, { "@id": "http://reg.genome.network/allele/PA2499238181", "coordinates": [ { "allele": "C", "end": 1820, "referenceAllele": "G", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "NM_001122607.1:c.242G>C" ], "proteinEffect": { "hgvs": "NP_001116079.1:p.Cys81Ser", "hgvsWellDefined": "NP_001116079.1:p.Cys81Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011378" }, { "@id": "http://reg.genome.network/allele/PA2829341661", "coordinates": [ { "allele": "C", "end": 513, "referenceAllele": "G", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "NM_001754.4:c.323G>C", "LRG_482t1:c.323G>C" ], "proteinEffect": { "hgvs": "NP_001745.2:p.Cys108Ser", "hgvsWellDefined": "NP_001745.2:p.Cys108Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS027088" }, { "coordinates": [ { "allele": "C", "end": 776, "referenceAllele": "G", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XM_005261068.3:c.287G>C" ], "proteinEffect": { "hgvs": "XP_005261125.1:p.Cys96Ser", "hgvsWellDefined": "XP_005261125.1:p.Cys96Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS063034" }, { "coordinates": [ { "allele": "C", "end": 502, "referenceAllele": "G", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XM_005261069.3:c.323G>C" ], "proteinEffect": { "hgvs": "XP_005261126.1:p.Cys108Ser", "hgvsWellDefined": "XP_005261126.1:p.Cys108Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS063035" }, { "coordinates": [ { "allele": "C", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XM_011529766.1:c.323G>C" ], "proteinEffect": { "hgvs": "XP_011528068.1:p.Cys108Ser", "hgvsWellDefined": "XP_011528068.1:p.Cys108Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS096831" }, { "coordinates": [ { "allele": "C", "end": 484, "referenceAllele": "G", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XM_011529767.1:c.284G>C" ], "proteinEffect": { "hgvs": "XP_011528069.1:p.Cys95Ser", "hgvsWellDefined": "XP_011528069.1:p.Cys95Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS096832" }, { "coordinates": [ { "allele": "C", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XM_011529768.1:c.284G>C" ], "proteinEffect": { "hgvs": "XP_011528070.1:p.Cys95Ser", "hgvsWellDefined": "XP_011528070.1:p.Cys95Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS096833" }, { "coordinates": [ { "allele": "C", "end": 502, "referenceAllele": "G", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XM_011529770.1:c.323G>C" ], "proteinEffect": { "hgvs": "XP_011528072.1:p.Cys108Ser", "hgvsWellDefined": "XP_011528072.1:p.Cys108Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS096835" }, { "coordinates": [ { "allele": "C", "end": 502, "referenceAllele": "G", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XR_937576.1:n.502G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS132378" }, { "coordinates": [ { "allele": "C", "end": 549, "referenceAllele": "G", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XM_005261069.4:c.323G>C" ], "proteinEffect": { "hgvs": "XP_005261126.1:p.Cys108Ser", "hgvsWellDefined": "XP_005261126.1:p.Cys108Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS535284" }, { "coordinates": [ { "allele": "C", "end": 624, "referenceAllele": "G", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XM_011529766.2:c.323G>C" ], "proteinEffect": { "hgvs": "XP_011528068.1:p.Cys108Ser", "hgvsWellDefined": "XP_011528068.1:p.Cys108Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS549660" }, { "coordinates": [ { "allele": "C", "end": 510, "referenceAllele": "G", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XM_011529767.2:c.284G>C" ], "proteinEffect": { "hgvs": "XP_011528069.1:p.Cys95Ser", "hgvsWellDefined": "XP_011528069.1:p.Cys95Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS549661" }, { "coordinates": [ { "allele": "C", "end": 510, "referenceAllele": "G", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XM_011529768.2:c.284G>C" ], "proteinEffect": { "hgvs": "XP_011528070.1:p.Cys95Ser", "hgvsWellDefined": "XP_011528070.1:p.Cys95Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS549662" }, { "coordinates": [ { "allele": "C", "end": 549, "referenceAllele": "G", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XM_011529770.2:c.323G>C" ], "proteinEffect": { "hgvs": "XP_011528072.1:p.Cys108Ser", "hgvsWellDefined": "XP_011528072.1:p.Cys108Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS549663" }, { "coordinates": [ { "allele": "C", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XM_017028487.1:c.170G>C" ], "proteinEffect": { "hgvs": "XP_016883976.1:p.Cys57Ser", "hgvsWellDefined": "XP_016883976.1:p.Cys57Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS578227" }, { "coordinates": [ { "allele": "C", "end": 549, "referenceAllele": "G", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XR_937576.2:n.549G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS611635" }, { "@id": "http://reg.genome.network/allele/PA2825237027", "coordinates": [ { "allele": "C", "end": 1829, "referenceAllele": "G", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "NM_001001890.3:c.242G>C" ], "proteinEffect": { "hgvs": "NP_001001890.1:p.Cys81Ser", "hgvsWellDefined": "NP_001001890.1:p.Cys81Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS675044" }, { "@id": "http://reg.genome.network/allele/PA2499238181", "coordinates": [ { "allele": "C", "end": 1829, "referenceAllele": "G", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "NM_001122607.2:c.242G>C" ], "proteinEffect": { "hgvs": "NP_001116079.1:p.Cys81Ser", "hgvsWellDefined": "NP_001116079.1:p.Cys81Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676773" }, { "@id": "http://reg.genome.network/allele/PA2829341661", "coordinates": [ { "allele": "C", "end": 517, "referenceAllele": "G", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "NM_001754.5:c.323G>C" ], "proteinEffect": { "hgvs": "NP_001745.2:p.Cys108Ser", "hgvsWellDefined": "NP_001745.2:p.Cys108Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS727204", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675419.1:c.323G>C" }, "RefSeq": { "hgvs": "NM_001754.5:c.323G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501943.1:p.Cys108Ser" }, "RefSeq": { "hgvs": "NP_001745.2:p.Cys108Ser" } } } } ], "type": "nucleotide" }