{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA220601518", "communityStandardTitle": [ "NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1947817[alleleid]", "alleleId": 1947817, "preferredName": "NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2416596", "RCV": [ "RCV003108847" ], "variationId": 2416596 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.36597199T>A?assembly=hg19", "id": "chr11:g.36597199T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.36575649T>A?assembly=hg38", "id": "chr11:g.36575649T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200300629", "rs": 200300629 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-36575649-T-A?dataset=gnomad_r4", "id": "11-36575649-T-A", "variant": "11:36575649 T / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 36575649, "referenceAllele": "T", "start": 36575648 } ], "hgvs": [ "NC_000011.10:g.36575649T>A", "CM000673.2:g.36575649T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 36597199, "referenceAllele": "T", "start": 36597198 } ], "hgvs": [ "NC_000011.9:g.36597199T>A", "CM000673.1:g.36597199T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 36553775, "referenceAllele": "T", "start": 36553774 } ], "hgvs": [ "NC_000011.8:g.36553775T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 12637, "referenceAllele": "T", "start": 12636 } ], "hgvs": [ "NG_007528.1:g.12637T>A", "LRG_98:g.12637T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000636" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2641, "referenceAllele": "T", "start": 2640 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000697713.1:c.2345T>A" ], "proteinEffect": { "hgvs": "ENSP00000513411.1:p.Val782Asp", "hgvsWellDefined": "ENSP00000513411.1:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS908925" }, { "coordinates": [ { "allele": "A", "end": 2525, "referenceAllele": "T", "start": 2524 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000697714.1:c.2345T>A" ], "proteinEffect": { "hgvs": "ENSP00000513412.1:p.Val782Asp", "hgvsWellDefined": "ENSP00000513412.1:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS908926" }, { "coordinates": [ { "allele": "A", "end": 2768, "referenceAllele": "T", "start": 2767 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000697715.1:c.2345T>A" ], "proteinEffect": { "hgvs": "ENSP00000513413.1:p.Val782Asp", "hgvsWellDefined": "ENSP00000513413.1:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS908927" }, { "coordinates": [ { "allele": "A", "end": 2475, "referenceAllele": "T", "start": 2474 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000299440.6:c.2345T>A" ], "proteinEffect": { "hgvs": "ENSP00000299440.5:p.Val782Asp", "hgvsWellDefined": "ENSP00000299440.5:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS744676", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299440.6:c.2345T>A" }, "RefSeq": { "hgvs": "NM_000448.3:c.2345T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299440.5:p.Val782Asp" }, "RefSeq": { "hgvs": "NP_000439.2:p.Val782Asp" } } } }, { "coordinates": [ { "allele": "A", "end": 2457, "referenceAllele": "T", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000299440.5:c.2345T>A" ], "proteinEffect": { "hgvs": "ENSP00000299440.5:p.Val782Asp", "hgvsWellDefined": "ENSP00000299440.5:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS254725" }, { "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "A", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN009832", "geneNCBI_id": 5897, "geneSymbol": "RAG2", "hgvs": [ "ENST00000524423.1:n.454A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS350588" }, { "coordinates": [ { "allele": "A", "end": 2981, "referenceAllele": "T", "start": 2980 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000534663.1:c.2345T>A" ], "proteinEffect": { "hgvs": "ENSP00000434610.1:p.Val782Asp", "hgvsWellDefined": "ENSP00000434610.1:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS359238" }, { "coordinates": [ { "allele": "A", "end": 2469, "referenceAllele": "T", "start": 2468 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_000448.2:c.2345T>A", "LRG_98t1:c.2345T>A" ], "proteinEffect": { "hgvs": "NP_000439.1:p.Val782Asp", "hgvsWellDefined": "NP_000439.1:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS006510" }, { "coordinates": [ { "allele": "A", "end": 2497, "referenceAllele": "T", "start": 2496 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_005253041.3:c.2345T>A" ], "proteinEffect": { "hgvs": "XP_005253098.1:p.Val782Asp", "hgvsWellDefined": "XP_005253098.1:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS060133" }, { "coordinates": [ { "allele": "A", "end": 2611, "referenceAllele": "T", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_011520250.1:c.2345T>A" ], "proteinEffect": { "hgvs": "XP_011518552.1:p.Val782Asp", "hgvsWellDefined": "XP_011518552.1:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS087419" }, { "coordinates": [ { "allele": "A", "end": 2709, "referenceAllele": "T", "start": 2708 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_011520251.1:c.2345T>A" ], "proteinEffect": { "hgvs": "XP_011518553.1:p.Val782Asp", "hgvsWellDefined": "XP_011518553.1:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS087420" }, { "coordinates": [ { "allele": "A", "end": 2531, "referenceAllele": "T", "start": 2530 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_005253041.4:c.2345T>A" ], "proteinEffect": { "hgvs": "XP_005253098.1:p.Val782Asp", "hgvsWellDefined": "XP_005253098.1:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS533889" }, { "coordinates": [ { "allele": "A", "end": 2645, "referenceAllele": "T", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_011520250.2:c.2345T>A" ], "proteinEffect": { "hgvs": "XP_011518552.1:p.Val782Asp", "hgvsWellDefined": "XP_011518552.1:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS545657" }, { "@id": "http://reg.genome.network/allele/PA2825177615", "coordinates": [ { "allele": "A", "end": 2475, "referenceAllele": "T", "start": 2474 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_000448.3:c.2345T>A" ], "proteinEffect": { "hgvs": "NP_000439.2:p.Val782Asp", "hgvsWellDefined": "NP_000439.2:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS674851", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299440.6:c.2345T>A" }, "RefSeq": { "hgvs": "NM_000448.3:c.2345T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299440.5:p.Val782Asp" }, "RefSeq": { "hgvs": "NP_000439.2:p.Val782Asp" } } } }, { "@id": "http://reg.genome.network/allele/PA2828706970", "coordinates": [ { "allele": "A", "end": 2818, "referenceAllele": "T", "start": 2817 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377277.1:c.2345T>A" ], "proteinEffect": { "hgvs": "NP_001364206.1:p.Val782Asp", "hgvsWellDefined": "NP_001364206.1:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS695063" }, { "@id": "http://reg.genome.network/allele/PA2828707651", "coordinates": [ { "allele": "A", "end": 2756, "referenceAllele": "T", "start": 2755 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377278.1:c.2345T>A" ], "proteinEffect": { "hgvs": "NP_001364207.1:p.Val782Asp", "hgvsWellDefined": "NP_001364207.1:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS695064" }, { "@id": "http://reg.genome.network/allele/PA2828708332", "coordinates": [ { "allele": "A", "end": 2658, "referenceAllele": "T", "start": 2657 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377279.1:c.2345T>A" ], "proteinEffect": { "hgvs": "NP_001364208.1:p.Val782Asp", "hgvsWellDefined": "NP_001364208.1:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS695065" }, { "@id": "http://reg.genome.network/allele/PA2580239565", "coordinates": [ { "allele": "A", "end": 2544, "referenceAllele": "T", "start": 2543 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377280.1:c.2345T>A" ], "proteinEffect": { "hgvs": "NP_001364209.1:p.Val782Asp", "hgvsWellDefined": "NP_001364209.1:p.Val782Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS695066" } ], "type": "nucleotide" }