{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA658760339", "communityStandardTitle": [ "NM_000243.3(MEFV):c.[501G>C;1437C>G] (p.[Glu167Asp;Phe479Leu])" ], "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 3247166, "referenceAllele": "G", "start": 3247165 }, { "allele": "G", "end": 3254567, "referenceAllele": "C", "start": 3254566 } ], "hgvs": [ "NC_000016.10:g.[3247166G>C;3254567C>G]", "CM000678.2:g.[3247166G>C;3254567C>G]" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 3297166, "referenceAllele": "G", "start": 3297165 }, { "allele": "G", "end": 3304567, "referenceAllele": "C", "start": 3304566 } ], "hgvs": [ "NC_000016.9:g.[3297166G>C;3304567C>G]", "CM000678.1:g.[3297166G>C;3304567C>G]" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 3237167, "referenceAllele": "G", "start": 3237166 }, { "allele": "G", "end": 3244568, "referenceAllele": "C", "start": 3244567 } ], "hgvs": [ "NC_000016.8:g.[3237167G>C;3244568C>G]" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "C", "end": 7061, "referenceAllele": "G", "start": 7060 }, { "allele": "G", "end": 14462, "referenceAllele": "C", "start": 14461 } ], "hgvs": [ "NG_007871.1:g.[7061G>C;14462C>G]", "LRG_190:g.[7061G>C;14462C>G]" ], "referenceSequence": "http://reg.genome.network/refseq/RS000680" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 547, "referenceAllele": "G", "start": 546 }, { "allele": "G", "end": 1483, "referenceAllele": "C", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000219596.6:c.[501G>C;1437C>G]" ], "proteinEffect": { "hgvs": "ENSP00000219596.1:p.[Glu167Asp;Phe479Leu]", "hgvsWellDefined": "ENSP00000219596.1:p.[Glu167Asp;Phe479Leu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS740442", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.[501G>C;1437C>G]" }, "RefSeq": { "hgvs": "NM_000243.3:c.[501G>C;1437C>G]" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.[Glu167Asp;Phe479Leu]" }, "RefSeq": { "hgvs": "NP_000234.1:p.[Glu167Asp;Phe479Leu]" } } } }, { "coordinates": [ { "allele": "C", "end": 541, "referenceAllele": "G", "start": 540 }, { "allele": "G", "end": 1477, "referenceAllele": "C", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000219596.5:c.[501G>C;1437C>G]" ], "proteinEffect": { "hgvs": "ENSP00000219596.1:p.[Glu167Asp;Phe479Leu]", "hgvsWellDefined": "ENSP00000219596.1:p.[Glu167Asp;Phe479Leu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS248198" }, { "coordinates": [ { "allele": "C", "end": 317, "endIntronDirection": "+", "endIntronOffset": 1744, "referenceAllele": "G", "start": 317, "startIntronDirection": "+", "startIntronOffset": 1743 }, { "allele": "G", "end": 937, "referenceAllele": "C", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000339854.8:c.[277+1744G>C;897C>G]" ], "proteinEffect": { "hgvs": "ENSP00000339639.4:p.Phe299Leu", "hgvsWellDefined": "ENSP00000339639.4:p.Phe299Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS260963" }, { "coordinates": [ { "allele": "C", "end": 277, "endIntronDirection": "+", "endIntronOffset": 1744, "referenceAllele": "G", "start": 277, "startIntronDirection": "+", "startIntronOffset": 1743 }, { "allele": "G", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000536379.5:c.[277+1744G>C;804C>G]" ], "proteinEffect": { "hgvs": "ENSP00000445079.1:p.Phe268Leu", "hgvsWellDefined": "ENSP00000445079.1:p.Phe268Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS360237" }, { "coordinates": [ { "allele": "C", "end": 317, "endIntronDirection": "+", "endIntronOffset": 1744, "referenceAllele": "G", "start": 317, "startIntronDirection": "+", "startIntronOffset": 1743 }, { "allele": "G", "end": 844, "referenceAllele": "C", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000536980.5:c.[277+1744G>C;804C>G]" ], "proteinEffect": { "hgvs": "ENSP00000444178.1:p.Phe268Leu", "hgvsWellDefined": "ENSP00000444178.1:p.Phe268Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS360536" }, { "coordinates": [ { "allele": "C", "end": 541, "referenceAllele": "G", "start": 540 }, { "allele": "G", "end": 1477, "referenceAllele": "C", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000537682.5:c.[501G>C;1437C>G]" ], "proteinEffect": { "hgvs": "ENSP00000438611.1:p.[Glu167Asp;Phe479Leu]", "hgvsWellDefined": "ENSP00000438611.1:p.[Glu167Asp;Phe479Leu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS360904" }, { "coordinates": [ { "allele": "C", "end": 541, "referenceAllele": "G", "start": 540 }, { "allele": "G", "end": 1575, "referenceAllele": "C", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000538326.5:c.[501G>C;*62C>G]" ], "proteinEffect": { "hgvs": "ENSP00000437486.1:[p.Glu167Asp;n.*62C>G]", "hgvsWellDefined": "ENSP00000437486.1:p.Glu167Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS361258" }, { "coordinates": [ { "allele": "C", "end": 277, "endIntronDirection": "+", "endIntronOffset": 1744, "referenceAllele": "G", "start": 277, "startIntronDirection": "+", "startIntronOffset": 1743 }, { "allele": "G", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000539145.5:c.[277+1744G>C;358C>G]" ], "proteinEffect": { "hgvs": "ENSP00000444471.1:n.[277+1744G>C;358C>G]" }, "referenceSequence": "http://reg.genome.network/refseq/RS361697" }, { "coordinates": [ { "allele": "C", "end": 277, "endIntronDirection": "+", "endIntronOffset": 1744, "referenceAllele": "G", "start": 277, "startIntronDirection": "+", "startIntronOffset": 1743 }, { "allele": "G", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000541159.5:c.[277+1744G>C;804C>G]" ], "proteinEffect": { "hgvs": "ENSP00000438711.1:p.Phe268Leu", "hgvsWellDefined": "ENSP00000438711.1:p.Phe268Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS362786" }, { "coordinates": [ { "allele": "C", "end": 541, "referenceAllele": "G", "start": 540 }, { "allele": "G", "end": 1570, "referenceAllele": "C", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000542898.5:c.[501G>C;1530C>G]" ], "proteinEffect": { "hgvs": "ENSP00000444615.1:p.[Glu167Asp;Phe510Leu]", "hgvsWellDefined": "ENSP00000444615.1:p.[Glu167Asp;Phe510Leu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS363711" }, { "coordinates": [ { "allele": "C", "end": 501, "referenceAllele": "G", "start": 500 }, { "allele": "G", "end": 991, "referenceAllele": "C", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000570511.5:c.[501G>C;991C>G]" ], "proteinEffect": { "hgvs": "ENSP00000458312.1:[p.Glu167Asp;n.991C>G]", "hgvsWellDefined": "ENSP00000458312.1:p.Glu167Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS382123" }, { "coordinates": [ { "allele": "C", "end": 277, "endIntronDirection": "+", "endIntronOffset": 1744, "referenceAllele": "G", "start": 277, "startIntronDirection": "+", "startIntronOffset": 1743 }, { "allele": "G", "end": 277, "endIntronDirection": "-", "endIntronOffset": 618, "referenceAllele": "C", "start": 277, "startIntronDirection": "-", "startIntronOffset": 619 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000572244.5:c.[277+1744G>C;278-619C>G]" ], "proteinEffect": { "hgvs": "ENSP00000461186.1:n.[277+1744G>C;278-619C>G]" }, "referenceSequence": "http://reg.genome.network/refseq/RS382841" }, { "coordinates": [ { "allele": "C", "end": 277, "endIntronDirection": "+", "endIntronOffset": 1744, "referenceAllele": "G", "start": 277, "startIntronDirection": "+", "startIntronOffset": 1743 }, { "allele": "G", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000574583.5:c.[277+1744G>C;358C>G]" ], "proteinEffect": { "hgvs": "ENSP00000460269.1:n.[277+1744G>C;358C>G]" }, "referenceSequence": "http://reg.genome.network/refseq/RS383748" }, { "coordinates": [ { "allele": "C", "end": 277, "endIntronDirection": "+", "endIntronOffset": 1744, "referenceAllele": "G", "start": 277, "startIntronDirection": "+", "startIntronOffset": 1743 }, { "allele": "G", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000576315.5:c.[277+1744G>C;358C>G]" ], "proteinEffect": { "hgvs": "ENSP00000460551.1:n.[277+1744G>C;358C>G]" }, "referenceSequence": "http://reg.genome.network/refseq/RS384430" }, { "coordinates": [ { "allele": "C", "end": 277, "endIntronDirection": "+", "endIntronOffset": 1744, "referenceAllele": "G", "start": 277, "startIntronDirection": "+", "startIntronOffset": 1743 }, { "allele": "G", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000621655.1:c.[277+1744G>C;804C>G]" ], "proteinEffect": { "hgvs": "ENSP00000481436.1:p.Phe268Leu", "hgvsWellDefined": "ENSP00000481436.1:p.Phe268Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS405372" }, { "coordinates": [ { "allele": "C", "end": 541, "referenceAllele": "G", "start": 540 }, { "allele": "G", "end": 1477, "referenceAllele": "C", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.2:c.[501G>C;1437C>G]", "LRG_190t1:c.[501G>C;1437C>G]" ], "proteinEffect": { "hgvs": "NP_000234.1:p.[Glu167Asp;Phe479Leu]", "hgvsWellDefined": "NP_000234.1:p.[Glu167Asp;Phe479Leu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS006305" }, { "coordinates": [ { "allele": "C", "end": 317, "endIntronDirection": "+", "endIntronOffset": 1744, "referenceAllele": "G", "start": 317, "startIntronDirection": "+", "startIntronOffset": 1743 }, { "allele": "G", "end": 844, "referenceAllele": "C", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.1:c.[277+1744G>C;804C>G]" ], "proteinEffect": { "hgvs": "NP_001185465.1:p.Phe268Leu", "hgvsWellDefined": "NP_001185465.1:p.Phe268Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS016767" }, { "coordinates": [ { "allele": "C", "end": 683, "referenceAllele": "G", "start": 682 }, { "allele": "G", "end": 1616, "referenceAllele": "C", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XM_017023236.2:c.[501G>C;1434C>G]" ], "proteinEffect": { "hgvs": "XP_016878725.1:p.[Glu167Asp;Phe478Leu]", "hgvsWellDefined": "XP_016878725.1:p.[Glu167Asp;Phe478Leu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574032" }, { "coordinates": [ { "allele": "C", "end": 690, "referenceAllele": "G", "start": 689 }, { "allele": "G", "end": 1626, "referenceAllele": "C", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XR_001751903.1:n.[690G>C;1626C>G]" ], "referenceSequence": "http://reg.genome.network/refseq/RS598691" }, { "coordinates": [ { "allele": "C", "end": 547, "referenceAllele": "G", "start": 546 }, { "allele": "G", "end": 1483, "referenceAllele": "C", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.3:c.[501G>C;1437C>G]" ], "proteinEffect": { "hgvs": "NP_000234.1:p.[Glu167Asp;Phe479Leu]", "hgvsWellDefined": "NP_000234.1:p.[Glu167Asp;Phe479Leu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS674759", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.[501G>C;1437C>G]" }, "RefSeq": { "hgvs": "NM_000243.3:c.[501G>C;1437C>G]" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.[Glu167Asp;Phe479Leu]" }, "RefSeq": { "hgvs": "NP_000234.1:p.[Glu167Asp;Phe479Leu]" } } } }, { "@id": "http://reg.genome.network/allele/PA2826221725", "coordinates": [ { "allele": "C", "end": 323, "endIntronDirection": "+", "endIntronOffset": 1744, "referenceAllele": "G", "start": 323, "startIntronDirection": "+", "startIntronOffset": 1743 }, { "allele": "G", "end": 850, "referenceAllele": "C", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.2:c.[277+1744G>C;804C>G]" ], "proteinEffect": { "hgvs": "NP_001185465.2:p.Phe268Leu", "hgvsWellDefined": "NP_001185465.2:p.Phe268Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679391" } ], "type": "nucleotide" }