{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7860109", "communityStandardTitle": [ "NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=949377[alleleid]", "alleleId": 949377, "preferredName": "NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/955767", "RCV": [ "RCV001228467", "RCV002504301", "RCV003127706", "RCV003127705" ], "variationId": 955767 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-3297075-C-T", "id": "16-3297075-C-T", "variant": "16:3297075 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3297075C>T?assembly=hg19", "id": "chr16:g.3297075C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3247075C>T?assembly=hg38", "id": "chr16:g.3247075C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200557537", "rs": 200557537 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-3297075-C-T?dataset=gnomad_r2_1", "id": "16-3297075-C-T", "variant": "16:3297075 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-3247075-C-T?dataset=gnomad_r3", "id": "16-3247075-C-T", "variant": "16:3247075 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-3247075-C-T?dataset=gnomad_r4", "id": "16-3247075-C-T", "variant": "16:3247075 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 3247075, "referenceAllele": "C", "start": 3247074 } ], "hgvs": [ "NC_000016.10:g.3247075C>T", "CM000678.2:g.3247075C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 3297075, "referenceAllele": "C", "start": 3297074 } ], "hgvs": [ "NC_000016.9:g.3297075C>T", "CM000678.1:g.3297075C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 3237076, "referenceAllele": "C", "start": 3237075 } ], "hgvs": [ "NC_000016.8:g.3237076C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 14553, "referenceAllele": "G", "start": 14552 } ], "hgvs": [ "NG_007871.1:g.14553G>A", "LRG_190:g.14553G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000680" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1574, "referenceAllele": "G", "start": 1573 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000219596.6:c.1528G>A" ], "proteinEffect": { "hgvs": "ENSP00000219596.1:p.Asp510Asn", "hgvsWellDefined": "ENSP00000219596.1:p.Asp510Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS740442", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.1528G>A" }, "RefSeq": { "hgvs": "NM_000243.3:c.1528G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.Asp510Asn" }, "RefSeq": { "hgvs": "NP_000234.1:p.Asp510Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 1568, "referenceAllele": "G", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000219596.5:c.1528G>A" ], "proteinEffect": { "hgvs": "ENSP00000219596.1:p.Asp510Asn", "hgvsWellDefined": "ENSP00000219596.1:p.Asp510Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS248198" }, { "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "G", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000339854.8:c.988G>A" ], "proteinEffect": { "hgvs": "ENSP00000339639.4:p.Asp330Asn", "hgvsWellDefined": "ENSP00000339639.4:p.Asp330Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS260963" }, { "coordinates": [ { "allele": "A", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000536379.5:c.895G>A" ], "proteinEffect": { "hgvs": "ENSP00000445079.1:p.Asp299Asn", "hgvsWellDefined": "ENSP00000445079.1:p.Asp299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS360237" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000536980.5:c.895G>A" ], "proteinEffect": { "hgvs": "ENSP00000444178.1:p.Asp299Asn", "hgvsWellDefined": "ENSP00000444178.1:p.Asp299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS360536" }, { "coordinates": [ { "allele": "A", "end": 1568, "referenceAllele": "G", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000537682.5:c.1528G>A" ], "proteinEffect": { "hgvs": "ENSP00000438611.1:p.Asp510Asn", "hgvsWellDefined": "ENSP00000438611.1:p.Asp510Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS360904" }, { "coordinates": [ { "allele": "A", "end": 1666, "referenceAllele": "G", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000538326.5:c.*153G>A" ], "proteinEffect": { "hgvs": "ENSP00000437486.1:n.*153G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS361258" }, { "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000539145.5:c.449G>A" ], "proteinEffect": { "hgvs": "ENSP00000444471.1:n.449G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS361697" }, { "coordinates": [ { "allele": "A", "end": 893, "referenceAllele": "G", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000539154.1:n.893G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS361700" }, { "coordinates": [ { "allele": "A", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000541159.5:c.895G>A" ], "proteinEffect": { "hgvs": "ENSP00000438711.1:p.Asp299Asn", "hgvsWellDefined": "ENSP00000438711.1:p.Asp299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS362786" }, { "coordinates": [ { "allele": "A", "end": 1661, "referenceAllele": "G", "start": 1660 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000542898.5:c.1621G>A" ], "proteinEffect": { "hgvs": "ENSP00000444615.1:p.Asp541Asn", "hgvsWellDefined": "ENSP00000444615.1:p.Asp541Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS363711" }, { "coordinates": [ { "allele": "A", "end": 1082, "referenceAllele": "G", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000570511.5:c.1082G>A" ], "proteinEffect": { "hgvs": "ENSP00000458312.1:n.1082G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS382123" }, { "coordinates": [ { "allele": "A", "end": 277, "endIntronDirection": "-", "endIntronOffset": 527, "referenceAllele": "G", "start": 277, "startIntronDirection": "-", "startIntronOffset": 528 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000572244.5:c.278-528G>A" ], "proteinEffect": { "hgvs": "ENSP00000461186.1:n.278-528G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS382841" }, { "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000574583.5:c.449G>A" ], "proteinEffect": { "hgvs": "ENSP00000460269.1:n.449G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS383748" }, { "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000576315.5:c.449G>A" ], "proteinEffect": { "hgvs": "ENSP00000460551.1:n.449G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS384430" }, { "coordinates": [ { "allele": "A", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000621655.1:c.895G>A" ], "proteinEffect": { "hgvs": "ENSP00000481436.1:p.Asp299Asn", "hgvsWellDefined": "ENSP00000481436.1:p.Asp299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS405372" }, { "@id": "http://reg.genome.network/allele/PA1139674658", "coordinates": [ { "allele": "A", "end": 1568, "referenceAllele": "G", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.2:c.1528G>A", "LRG_190t1:c.1528G>A" ], "proteinEffect": { "hgvs": "NP_000234.1:p.Asp510Asn", "hgvsWellDefined": "NP_000234.1:p.Asp510Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006305" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.1:c.895G>A" ], "proteinEffect": { "hgvs": "NP_001185465.1:p.Asp299Asn", "hgvsWellDefined": "NP_001185465.1:p.Asp299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS016767" }, { "coordinates": [ { "allele": "A", "end": 1707, "referenceAllele": "G", "start": 1706 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XM_017023236.2:c.1525G>A" ], "proteinEffect": { "hgvs": "XP_016878725.1:p.Asp509Asn", "hgvsWellDefined": "XP_016878725.1:p.Asp509Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS574032" }, { "coordinates": [ { "allele": "A", "end": 1717, "referenceAllele": "G", "start": 1716 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XR_001751903.1:n.1717G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598691" }, { "@id": "http://reg.genome.network/allele/PA1139674658", "coordinates": [ { "allele": "A", "end": 1574, "referenceAllele": "G", "start": 1573 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.3:c.1528G>A" ], "proteinEffect": { "hgvs": "NP_000234.1:p.Asp510Asn", "hgvsWellDefined": "NP_000234.1:p.Asp510Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS674759", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.1528G>A" }, "RefSeq": { "hgvs": "NM_000243.3:c.1528G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.Asp510Asn" }, "RefSeq": { "hgvs": "NP_000234.1:p.Asp510Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2826174716", "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "G", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.2:c.895G>A" ], "proteinEffect": { "hgvs": "NP_001185465.2:p.Asp299Asn", "hgvsWellDefined": "NP_001185465.2:p.Asp299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS679391" } ], "type": "nucleotide" }