{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA394470289", "communityStandardTitle": [ "NM_000243.3(MEFV):c.1105C>G (p.Pro369Ala)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3299586G>C?assembly=hg19", "id": "chr16:g.3299586G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3249586G>C?assembly=hg38", "id": "chr16:g.3249586G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/11466023", "rs": 11466023 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 3249586, "referenceAllele": "G", "start": 3249585 } ], "hgvs": [ "NC_000016.10:g.3249586G>C", "CM000678.2:g.3249586G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 3299586, "referenceAllele": "G", "start": 3299585 } ], "hgvs": [ "NC_000016.9:g.3299586G>C", "CM000678.1:g.3299586G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 3239587, "referenceAllele": "G", "start": 3239586 } ], "hgvs": [ "NC_000016.8:g.3239587G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "G", "end": 12042, "referenceAllele": "C", "start": 12041 } ], "hgvs": [ "NG_007871.1:g.12042C>G", "LRG_190:g.12042C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000680" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1151, "referenceAllele": "C", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000219596.6:c.1105C>G" ], "proteinEffect": { "hgvs": "ENSP00000219596.1:p.Pro369Ala", "hgvsWellDefined": "ENSP00000219596.1:p.Pro369Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS740442", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.1105C>G" }, "RefSeq": { "hgvs": "NM_000243.3:c.1105C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.Pro369Ala" }, "RefSeq": { "hgvs": "NP_000234.1:p.Pro369Ala" } } } }, { "coordinates": [ { "allele": "G", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000219596.5:c.1105C>G" ], "proteinEffect": { "hgvs": "ENSP00000219596.1:p.Pro369Ala", "hgvsWellDefined": "ENSP00000219596.1:p.Pro369Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS248198" }, { "coordinates": [ { "allele": "G", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000339854.8:c.565C>G" ], "proteinEffect": { "hgvs": "ENSP00000339639.4:p.Pro189Ala", "hgvsWellDefined": "ENSP00000339639.4:p.Pro189Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS260963" }, { "coordinates": [ { "allele": "G", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000536379.5:c.472C>G" ], "proteinEffect": { "hgvs": "ENSP00000445079.1:p.Pro158Ala", "hgvsWellDefined": "ENSP00000445079.1:p.Pro158Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS360237" }, { "coordinates": [ { "allele": "G", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000536980.5:c.472C>G" ], "proteinEffect": { "hgvs": "ENSP00000444178.1:p.Pro158Ala", "hgvsWellDefined": "ENSP00000444178.1:p.Pro158Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS360536" }, { "coordinates": [ { "allele": "G", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000537682.5:c.1105C>G" ], "proteinEffect": { "hgvs": "ENSP00000438611.1:p.Pro369Ala", "hgvsWellDefined": "ENSP00000438611.1:p.Pro369Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS360904" }, { "coordinates": [ { "allele": "G", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000538326.5:c.1105C>G" ], "proteinEffect": { "hgvs": "ENSP00000437486.1:p.Pro369Ala", "hgvsWellDefined": "ENSP00000437486.1:p.Pro369Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS361258" }, { "coordinates": [ { "allele": "G", "end": 277, "endIntronDirection": "-", "endIntronOffset": 2339, "referenceAllele": "C", "start": 277, "startIntronDirection": "-", "startIntronOffset": 2340 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000539145.5:c.278-2340C>G" ], "proteinEffect": { "hgvs": "ENSP00000444471.1:n.278-2340C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS361697" }, { "coordinates": [ { "allele": "G", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000541159.5:c.472C>G" ], "proteinEffect": { "hgvs": "ENSP00000438711.1:p.Pro158Ala", "hgvsWellDefined": "ENSP00000438711.1:p.Pro158Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS362786" }, { "coordinates": [ { "allele": "G", "end": 1238, "referenceAllele": "C", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000542898.5:c.1198C>G" ], "proteinEffect": { "hgvs": "ENSP00000444615.1:p.Pro400Ala", "hgvsWellDefined": "ENSP00000444615.1:p.Pro400Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS363711" }, { "coordinates": [ { "allele": "G", "end": 910, "endIntronDirection": "-", "endIntronOffset": 2339, "referenceAllele": "C", "start": 910, "startIntronDirection": "-", "startIntronOffset": 2340 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000570511.5:c.911-2340C>G" ], "proteinEffect": { "hgvs": "ENSP00000458312.1:n.911-2340C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS382123" }, { "coordinates": [ { "allele": "G", "end": 277, "endIntronDirection": "-", "endIntronOffset": 3038, "referenceAllele": "C", "start": 277, "startIntronDirection": "-", "startIntronOffset": 3039 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000572244.5:c.278-3039C>G" ], "proteinEffect": { "hgvs": "ENSP00000461186.1:n.278-3039C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS382841" }, { "coordinates": [ { "allele": "G", "end": 277, "endIntronDirection": "-", "endIntronOffset": 2339, "referenceAllele": "C", "start": 277, "startIntronDirection": "-", "startIntronOffset": 2340 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000574583.5:c.278-2340C>G" ], "proteinEffect": { "hgvs": "ENSP00000460269.1:n.278-2340C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS383748" }, { "coordinates": [ { "allele": "G", "end": 277, "endIntronDirection": "-", "endIntronOffset": 2339, "referenceAllele": "C", "start": 277, "startIntronDirection": "-", "startIntronOffset": 2340 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000576315.5:c.278-2340C>G" ], "proteinEffect": { "hgvs": "ENSP00000460551.1:n.278-2340C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS384430" }, { "coordinates": [ { "allele": "G", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000621655.1:c.472C>G" ], "proteinEffect": { "hgvs": "ENSP00000481436.1:p.Pro158Ala", "hgvsWellDefined": "ENSP00000481436.1:p.Pro158Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS405372" }, { "@id": "http://reg.genome.network/allele/PA3082805113", "coordinates": [ { "allele": "G", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.2:c.1105C>G", "LRG_190t1:c.1105C>G" ], "proteinEffect": { "hgvs": "NP_000234.1:p.Pro369Ala", "hgvsWellDefined": "NP_000234.1:p.Pro369Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS006305" }, { "coordinates": [ { "allele": "G", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.1:c.472C>G" ], "proteinEffect": { "hgvs": "NP_001185465.1:p.Pro158Ala", "hgvsWellDefined": "NP_001185465.1:p.Pro158Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS016767" }, { "coordinates": [ { "allele": "G", "end": 1287, "referenceAllele": "C", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XM_017023236.2:c.1105C>G" ], "proteinEffect": { "hgvs": "XP_016878725.1:p.Pro369Ala", "hgvsWellDefined": "XP_016878725.1:p.Pro369Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS574032" }, { "coordinates": [ { "allele": "G", "end": 1294, "referenceAllele": "C", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XR_001751903.1:n.1294C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS598691" }, { "@id": "http://reg.genome.network/allele/PA3082805113", "coordinates": [ { "allele": "G", "end": 1151, "referenceAllele": "C", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.3:c.1105C>G" ], "proteinEffect": { "hgvs": "NP_000234.1:p.Pro369Ala", "hgvsWellDefined": "NP_000234.1:p.Pro369Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS674759", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.1105C>G" }, "RefSeq": { "hgvs": "NM_000243.3:c.1105C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.Pro369Ala" }, "RefSeq": { "hgvs": "NP_000234.1:p.Pro369Ala" } } } }, { "coordinates": [ { "allele": "G", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.2:c.472C>G" ], "proteinEffect": { "hgvs": "NP_001185465.2:p.Pro158Ala", "hgvsWellDefined": "NP_001185465.2:p.Pro158Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS679391" } ], "type": "nucleotide" }