{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8023969", "communityStandardTitle": [ "NM_004960.4(FUS):c.1171C>G (p.Pro391Ala)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=530449[alleleid]", "alleleId": 530449, "preferredName": "NM_004960.4(FUS):c.1171C>G (p.Pro391Ala)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/540278", "RCV": [ "RCV000650267" ], "variationId": 540278 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-31201598-C-G", "id": "16-31201598-C-G", "variant": "16:31201598 C / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.31201598C>G?assembly=hg19", "id": "chr16:g.31201598C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.31190277C>G?assembly=hg38", "id": "chr16:g.31190277C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/560450437", "rs": 560450437 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-31201598-C-G?dataset=gnomad_r2_1", "id": "16-31201598-C-G", "variant": "16:31201598 C / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-31190277-C-G?dataset=gnomad_r3", "id": "16-31190277-C-G", "variant": "16:31190277 C / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-31190277-C-G?dataset=gnomad_r4", "id": "16-31190277-C-G", "variant": "16:31190277 C / G" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "G", "end": 31190277, "referenceAllele": "C", "start": 31190276 } ], "hgvs": [ "NC_000016.10:g.31190277C>G", "CM000678.2:g.31190277C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "G", "end": 31201598, "referenceAllele": "C", "start": 31201597 } ], "hgvs": [ "NC_000016.9:g.31201598C>G", "CM000678.1:g.31201598C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "G", "end": 31109099, "referenceAllele": "C", "start": 31109098 } ], "hgvs": [ "NC_000016.8:g.31109099C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "G", "end": 15146, "referenceAllele": "C", "start": 15145 } ], "hgvs": [ "NG_012889.2:g.15146C>G", "LRG_655:g.15146C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002611" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "ENST00000254108.12:c.1171C>G" ], "proteinEffect": { "hgvs": "ENSP00000254108.8:p.Pro391Ala", "hgvsWellDefined": "ENSP00000254108.8:p.Pro391Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS741640", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000254108.12:c.1171C>G" }, "RefSeq": { "hgvs": "NM_004960.4:c.1171C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000254108.8:p.Pro391Ala" }, "RefSeq": { "hgvs": "NP_004951.1:p.Pro391Ala" } } } }, { "coordinates": [ { "allele": "G", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "ENST00000254108.11:c.1171C>G" ], "proteinEffect": { "hgvs": "ENSP00000254108.7:p.Pro391Ala", "hgvsWellDefined": "ENSP00000254108.7:p.Pro391Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS249980" }, { "coordinates": [ { "allele": "G", "end": 1244, "referenceAllele": "C", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "ENST00000380244.7:c.1168C>G" ], "proteinEffect": { "hgvs": "ENSP00000369594.3:p.Pro390Ala", "hgvsWellDefined": "ENSP00000369594.3:p.Pro390Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS272837" }, { "coordinates": [ { "allele": "G", "end": 465, "referenceAllele": "C", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "ENST00000474990.5:n.465C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS316374" }, { "coordinates": [ { "allele": "G", "end": 4346, "referenceAllele": "C", "start": 4345 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "ENST00000487509.6:n.4346C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS326064" }, { "coordinates": [ { "allele": "G", "end": 1213, "referenceAllele": "C", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "ENST00000566605.5:c.*344C>G" ], "proteinEffect": { "hgvs": "ENSP00000455073.1:n.*344C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS379555" }, { "coordinates": [ { "allele": "G", "end": 1238, "referenceAllele": "C", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "ENST00000568685.1:c.1174C>G" ], "proteinEffect": { "hgvs": "ENSP00000455282.1:p.Pro392Ala", "hgvsWellDefined": "ENSP00000455282.1:p.Pro392Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS380963" }, { "coordinates": [ { "allele": "G", "end": 62, "referenceAllele": "C", "start": 61 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "ENST00000569760.5:n.62C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS381691" }, { "@id": "http://reg.genome.network/allele/PA2826069411", "coordinates": [ { "allele": "G", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "NM_001170634.1:c.1168C>G" ], "proteinEffect": { "hgvs": "NP_001164105.1:p.Pro390Ala", "hgvsWellDefined": "NP_001164105.1:p.Pro390Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS015188" }, { "@id": "http://reg.genome.network/allele/PA2826075782", "coordinates": [ { "allele": "G", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "NM_001170937.1:c.1159C>G" ], "proteinEffect": { "hgvs": "NP_001164408.1:p.Pro387Ala", "hgvsWellDefined": "NP_001164408.1:p.Pro387Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS015265" }, { "@id": "http://reg.genome.network/allele/PA658820409", "coordinates": [ { "allele": "G", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "NM_004960.3:c.1171C>G", "LRG_655t1:c.1171C>G" ], "proteinEffect": { "hgvs": "NP_004951.1:p.Pro391Ala", "hgvsWellDefined": "NP_004951.1:p.Pro391Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS030092" }, { "coordinates": [ { "allele": "G", "end": 1241, "referenceAllele": "C", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "NR_028388.2:n.1241C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS048035" }, { "coordinates": [ { "allele": "G", "end": 1644, "referenceAllele": "C", "start": 1643 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "XM_005255233.3:c.556C>G" ], "proteinEffect": { "hgvs": "XP_005255290.1:p.Pro186Ala", "hgvsWellDefined": "XP_005255290.1:p.Pro186Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS060894" }, { "coordinates": [ { "allele": "G", "end": 1242, "referenceAllele": "C", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "XM_011545781.1:c.1165C>G" ], "proteinEffect": { "hgvs": "XP_011544083.1:p.Pro389Ala", "hgvsWellDefined": "XP_011544083.1:p.Pro389Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS112665" }, { "coordinates": [ { "allele": "G", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "XM_011545782.1:c.556C>G" ], "proteinEffect": { "hgvs": "XP_011544084.1:p.Pro186Ala", "hgvsWellDefined": "XP_011544084.1:p.Pro186Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS112666" }, { "coordinates": [ { "allele": "G", "end": 1193, "referenceAllele": "C", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "XM_005255233.5:c.556C>G" ], "proteinEffect": { "hgvs": "XP_005255290.1:p.Pro186Ala", "hgvsWellDefined": "XP_005255290.1:p.Pro186Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS534258" }, { "coordinates": [ { "allele": "G", "end": 632, "referenceAllele": "C", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "XM_011545782.2:c.556C>G" ], "proteinEffect": { "hgvs": "XP_011544084.1:p.Pro186Ala", "hgvsWellDefined": "XP_011544084.1:p.Pro186Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS556239" }, { "coordinates": [ { "allele": "G", "end": 1238, "referenceAllele": "C", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "XM_024450221.1:c.1162C>G" ], "proteinEffect": { "hgvs": "XP_024305989.1:p.Pro388Ala", "hgvsWellDefined": "XP_024305989.1:p.Pro388Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS583762" }, { "@id": "http://reg.genome.network/allele/PA658820409", "coordinates": [ { "allele": "G", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN004010", "geneNCBI_id": 2521, "geneSymbol": "FUS", "hgvs": [ "NM_004960.4:c.1171C>G" ], "proteinEffect": { "hgvs": "NP_004951.1:p.Pro391Ala", "hgvsWellDefined": "NP_004951.1:p.Pro391Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS696285", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000254108.12:c.1171C>G" }, "RefSeq": { "hgvs": "NM_004960.4:c.1171C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000254108.8:p.Pro391Ala" }, "RefSeq": { "hgvs": "NP_004951.1:p.Pro391Ala" } } } } ], "type": "nucleotide" }