{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1134389", "communityStandardTitle": [ "NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2209616", "active": true, "id": "COSM2209616" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2209617", "active": true, "id": "COSM2209617" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=789852[alleleid]", "alleleId": 789852, "preferredName": "NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/801554", "RCV": [ "RCV000986423", "RCV001382523" ], "variationId": 801554 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-154960953-C-T", "id": "1-154960953-C-T", "variant": "1:154960953 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.154960953C>T?assembly=hg19", "id": "chr1:g.154960953C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.154988477C>T?assembly=hg38", "id": "chr1:g.154988477C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199979286", "rs": 199979286 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-154960953-C-T?dataset=gnomad_r2_1", "id": "1-154960953-C-T", "variant": "1:154960953 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-154988477-C-T?dataset=gnomad_r3", "id": "1-154988477-C-T", "variant": "1:154988477 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-154988477-C-T?dataset=gnomad_r4", "id": "1-154988477-C-T", "variant": "1:154988477 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 154988477, "referenceAllele": "C", "start": 154988476 } ], "hgvs": [ "NC_000001.11:g.154988477C>T", "CM000663.2:g.154988477C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 154960953, "referenceAllele": "C", "start": 154960952 } ], "hgvs": [ "NC_000001.10:g.154960953C>T", "CM000663.1:g.154960953C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 153227577, "referenceAllele": "C", "start": 153227576 } ], "hgvs": [ "NC_000001.9:g.153227577C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 10184, "referenceAllele": "C", "start": 10183 } ], "hgvs": [ "NG_042310.1:g.10184C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS006001" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "ENST00000292180.8:c.745C>T" ], "proteinEffect": { "hgvs": "ENSP00000292180.3:p.Arg249Ter", "hgvsWellDefined": "ENSP00000292180.3:p.Arg249_Thr587delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlySerSerLeuGlyLysLysValAlaGlyAlaLeuGlnThrIleGluThrSerLeuAlaGlnTyrSerLeuThrGlnLeuCysValGlyPheAsnGlyGlyLysAspCysThrAlaLeuLeuHisLeuPheHisAlaAlaValGlnArgLysLeuProAspValProAsnProLeuGlnIleLeuTyrIleArgSerIleSerProPheProGluLeuGluGlnPheLeuGlnAspThrIleLysArgTyrAsnLeuGlnMetLeuGluAlaGluGlySerMetLysGlnAlaLeuGlyGluLeuGlnAlaArgHisProGlnLeuGluAlaValLeuMetGlyThrArgArgThrAspProTyrSerCysSerLeuCysProPheSerProThrAspProGlyTrpProAlaPheMetArgIleAsnProLeuLeuAspTrpThrTyrArgAspIleTrpAspPheLeuArgGlnLeuPheValProTyrCysIleLeuTyrAspArgGlyTyrThrSerLeuGlySerArgGluAsnThrValArgAsnProAlaLeuLysCysLeuSerProGlyGlyHisProThrTyrArgProAlaTyrLeuLeuGluAsnGluGluGluGluArgAsnSerArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000292180.8:c.745C>T" }, "RefSeq": { "hgvs": "NM_025207.5:c.745C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000292180.3:p.Arg249Ter" }, "RefSeq": { "hgvs": "NP_079483.3:p.Arg249Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1067, "referenceAllele": "C", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "ENST00000292180.7:c.745C>T" ], "proteinEffect": { "hgvs": "ENSP00000292180.3:p.Arg249Ter", "hgvsWellDefined": "ENSP00000292180.3:p.Arg249_Thr587delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlySerSerLeuGlyLysLysValAlaGlyAlaLeuGlnThrIleGluThrSerLeuAlaGlnTyrSerLeuThrGlnLeuCysValGlyPheAsnGlyGlyLysAspCysThrAlaLeuLeuHisLeuPheHisAlaAlaValGlnArgLysLeuProAspValProAsnProLeuGlnIleLeuTyrIleArgSerIleSerProPheProGluLeuGluGlnPheLeuGlnAspThrIleLysArgTyrAsnLeuGlnMetLeuGluAlaGluGlySerMetLysGlnAlaLeuGlyGluLeuGlnAlaArgHisProGlnLeuGluAlaValLeuMetGlyThrArgArgThrAspProTyrSerCysSerLeuCysProPheSerProThrAspProGlyTrpProAlaPheMetArgIleAsnProLeuLeuAspTrpThrTyrArgAspIleTrpAspPheLeuArgGlnLeuPheValProTyrCysIleLeuTyrAspArgGlyTyrThrSerLeuGlySerArgGluAsnThrValArgAsnProAlaLeuLysCysLeuSerProGlyGlyHisProThrTyrArgProAlaTyrLeuLeuGluAsnGluGluGluGluArgAsnSerArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253790" }, { "coordinates": [ { "allele": "T", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "ENST00000295530.6:c.-57C>T" ], "proteinEffect": { "hgvs": "ENSP00000295530.2:n.-57C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS254106" }, { "coordinates": [ { "allele": "T", "end": 637, "referenceAllele": "C", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "ENST00000315144.14:c.454C>T" ], "proteinEffect": { "hgvs": "ENSP00000317296.10:p.Arg152Ter", "hgvsWellDefined": "ENSP00000317296.10:p.Arg152_Thr490delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlySerSerLeuGlyLysLysValAlaGlyAlaLeuGlnThrIleGluThrSerLeuAlaGlnTyrSerLeuThrGlnLeuCysValGlyPheAsnGlyGlyLysAspCysThrAlaLeuLeuHisLeuPheHisAlaAlaValGlnArgLysLeuProAspValProAsnProLeuGlnIleLeuTyrIleArgSerIleSerProPheProGluLeuGluGlnPheLeuGlnAspThrIleLysArgTyrAsnLeuGlnMetLeuGluAlaGluGlySerMetLysGlnAlaLeuGlyGluLeuGlnAlaArgHisProGlnLeuGluAlaValLeuMetGlyThrArgArgThrAspProTyrSerCysSerLeuCysProPheSerProThrAspProGlyTrpProAlaPheMetArgIleAsnProLeuLeuAspTrpThrTyrArgAspIleTrpAspPheLeuArgGlnLeuPheValProTyrCysIleLeuTyrAspArgGlyTyrThrSerLeuGlySerArgGluAsnThrValArgAsnProAlaLeuLysCysLeuSerProGlyGlyHisProThrTyrArgProAlaTyrLeuLeuGluAsnGluGluGluGluArgAsnSerArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257050" }, { "coordinates": [ { "allele": "T", "end": 1268, "referenceAllele": "C", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "ENST00000368431.7:c.448C>T" ], "proteinEffect": { "hgvs": "ENSP00000357416.3:p.Arg150Ter", "hgvsWellDefined": "ENSP00000357416.3:p.Arg150_Gln294delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlyArgAspLeuMetGluGluGlyHisTyrAlaGlnSerHisTrpTrpHisProArgSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266967" }, { "coordinates": [ { "allele": "T", "end": 631, "referenceAllele": "C", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "ENST00000368432.5:c.454C>T" ], "proteinEffect": { "hgvs": "ENSP00000357417.1:p.Arg152Ter", "hgvsWellDefined": "ENSP00000357417.1:p.Arg152_Gly446delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlySerSerLeuGlyLysLysValAlaGlyAlaLeuGlnThrIleGluThrSerLeuAlaGlnTyrSerLeuThrGlnLeuCysValGlyPheAsnGlyGlyLysAspCysThrAlaLeuLeuHisLeuPheHisAlaAlaValGlnArgLysLeuProAspValProAsnProLeuGlnIleLeuTyrIleArgSerIleSerProPheProGluLeuGluGlnPheLeuGlnAspThrIleLysArgTyrAsnLeuGlnMetLeuGluAlaGluGlySerMetLysGlnAlaLeuGlyGluLeuGlnAlaArgHisProGlnLeuGluAlaValLeuMetGlyThrArgArgThrAspProTyrSerCysSerLeuCysProPheSerProThrAspProGlyTrpProAlaPheMetArgIleAsnProLeuLeuAspTrpThrTyrArgAspIleTrpAspPheLeuArgGlnLeuPheValProTyrCysIleLeuTyrAspArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266968" }, { "coordinates": [ { "allele": "T", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "ENST00000368433.5:c.745C>T" ], "proteinEffect": { "hgvs": "ENSP00000357418.1:p.Arg249Ter", "hgvsWellDefined": "ENSP00000357418.1:p.Arg249_Tyr456delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlySerSerLeuGlyLysLysValAlaGlyAlaLeuGlnThrIleGluThrSerLeuAlaGlnTyrSerLeuThrGlnLeuCysValGlyPheAsnGlyGlyLysAspCysThrAlaLeuLeuHisLeuPheHisAlaAlaValGlnArgLysLeuProAspValProAsnProLeuGlnIleLeuTyrIleArgSerIleSerProPheProGluLeuGluGlnPheLeuGlnAspThrIleLysArgTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266969" }, { "@id": "http://reg.genome.network/allele/PA2826149289", "coordinates": [ { "allele": "T", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "NM_001184891.1:c.454C>T" ], "proteinEffect": { "hgvs": "NP_001171820.1:p.Arg152Ter", "hgvsWellDefined": "NP_001171820.1:p.Arg152_Gly446delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlySerSerLeuGlyLysLysValAlaGlyAlaLeuGlnThrIleGluThrSerLeuAlaGlnTyrSerLeuThrGlnLeuCysValGlyPheAsnGlyGlyLysAspCysThrAlaLeuLeuHisLeuPheHisAlaAlaValGlnArgLysLeuProAspValProAsnProLeuGlnIleLeuTyrIleArgSerIleSerProPheProGluLeuGluGlnPheLeuGlnAspThrIleLysArgTyrAsnLeuGlnMetLeuGluAlaGluGlySerMetLysGlnAlaLeuGlyGluLeuGlnAlaArgHisProGlnLeuGluAlaValLeuMetGlyThrArgArgThrAspProTyrSerCysSerLeuCysProPheSerProThrAspProGlyTrpProAlaPheMetArgIleAsnProLeuLeuAspTrpThrTyrArgAspIleTrpAspPheLeuArgGlnLeuPheValProTyrCysIleLeuTyrAspArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016026" }, { "@id": "http://reg.genome.network/allele/PA2826149441", "coordinates": [ { "allele": "T", "end": 1341, "referenceAllele": "C", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "NM_001184892.1:c.448C>T" ], "proteinEffect": { "hgvs": "NP_001171821.1:p.Arg150Ter", "hgvsWellDefined": "NP_001171821.1:p.Arg150_Gln294delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlyArgAspLeuMetGluGluGlyHisTyrAlaGlnSerHisTrpTrpHisProArgSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016027" }, { "@id": "http://reg.genome.network/allele/PA916056155", "coordinates": [ { "allele": "T", "end": 1146, "referenceAllele": "C", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "NM_025207.4:c.745C>T" ], "proteinEffect": { "hgvs": "NP_079483.3:p.Arg249Ter", "hgvsWellDefined": "NP_079483.3:p.Arg249_Thr587delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlySerSerLeuGlyLysLysValAlaGlyAlaLeuGlnThrIleGluThrSerLeuAlaGlnTyrSerLeuThrGlnLeuCysValGlyPheAsnGlyGlyLysAspCysThrAlaLeuLeuHisLeuPheHisAlaAlaValGlnArgLysLeuProAspValProAsnProLeuGlnIleLeuTyrIleArgSerIleSerProPheProGluLeuGluGlnPheLeuGlnAspThrIleLysArgTyrAsnLeuGlnMetLeuGluAlaGluGlySerMetLysGlnAlaLeuGlyGluLeuGlnAlaArgHisProGlnLeuGluAlaValLeuMetGlyThrArgArgThrAspProTyrSerCysSerLeuCysProPheSerProThrAspProGlyTrpProAlaPheMetArgIleAsnProLeuLeuAspTrpThrTyrArgAspIleTrpAspPheLeuArgGlnLeuPheValProTyrCysIleLeuTyrAspArgGlyTyrThrSerLeuGlySerArgGluAsnThrValArgAsnProAlaLeuLysCysLeuSerProGlyGlyHisProThrTyrArgProAlaTyrLeuLeuGluAsnGluGluGluGluArgAsnSerArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038270" }, { "@id": "http://reg.genome.network/allele/PA2830508352", "coordinates": [ { "allele": "T", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "NM_201398.2:c.454C>T" ], "proteinEffect": { "hgvs": "NP_958800.1:p.Arg152Ter", "hgvsWellDefined": "NP_958800.1:p.Arg152_Thr490delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlySerSerLeuGlyLysLysValAlaGlyAlaLeuGlnThrIleGluThrSerLeuAlaGlnTyrSerLeuThrGlnLeuCysValGlyPheAsnGlyGlyLysAspCysThrAlaLeuLeuHisLeuPheHisAlaAlaValGlnArgLysLeuProAspValProAsnProLeuGlnIleLeuTyrIleArgSerIleSerProPheProGluLeuGluGlnPheLeuGlnAspThrIleLysArgTyrAsnLeuGlnMetLeuGluAlaGluGlySerMetLysGlnAlaLeuGlyGluLeuGlnAlaArgHisProGlnLeuGluAlaValLeuMetGlyThrArgArgThrAspProTyrSerCysSerLeuCysProPheSerProThrAspProGlyTrpProAlaPheMetArgIleAsnProLeuLeuAspTrpThrTyrArgAspIleTrpAspPheLeuArgGlnLeuPheValProTyrCysIleLeuTyrAspArgGlyTyrThrSerLeuGlySerArgGluAsnThrValArgAsnProAlaLeuLysCysLeuSerProGlyGlyHisProThrTyrArgProAlaTyrLeuLeuGluAsnGluGluGluGluArgAsnSerArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045004" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "XM_005245502.2:c.454C>T" ], "proteinEffect": { "hgvs": "XP_005245559.1:p.Arg152Ter", "hgvsWellDefined": "XP_005245559.1:p.Arg152_Arg429delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlySerSerLeuGlyLysLysValAlaGlyAlaLeuGlnThrIleGluThrSerLeuAlaGlnTyrSerLeuThrGlnLeuCysValGlyPheAsnGlyGlyLysAspCysThrAlaLeuLeuHisLeuPheHisAlaAlaValGlnArgLysLeuProAspValProAsnProLeuGlnIleLeuTyrIleArgSerIleSerProPheProGluLeuGluGlnPheLeuGlnAspThrIleLysArgTyrAsnLeuGlnMetLeuGluAlaGluGlySerMetLysGlnAlaLeuGlyGluLeuGlnAlaArgHisProGlnLeuGluAlaValLeuMetGlyThrArgArgThrAspProTyrSerCysSerLeuCysProPheSerProThrAspProGlyTrpProAlaPheMetArgIleAsnProLeuLeuSerLysLeuTyrGlnArgIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057245" }, { "coordinates": [ { "allele": "T", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "XM_005245503.2:c.-57C>T" ], "proteinEffect": { "hgvs": "XP_005245560.1:n.-57C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS057246" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "XM_006711559.2:c.454C>T" ], "proteinEffect": { "hgvs": "XP_006711622.1:p.Arg152Ter", "hgvsWellDefined": "XP_006711622.1:p.Arg152_His283delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlyGlyArgCysProThrAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069183" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "XR_241098.3:n.663C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS115968" }, { "@id": "http://reg.genome.network/allele/PA916056155", "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "NM_025207.5:c.745C>T" ], "proteinEffect": { "hgvs": "NP_079483.3:p.Arg249Ter", "hgvsWellDefined": "NP_079483.3:p.Arg249_Thr587delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlySerSerLeuGlyLysLysValAlaGlyAlaLeuGlnThrIleGluThrSerLeuAlaGlnTyrSerLeuThrGlnLeuCysValGlyPheAsnGlyGlyLysAspCysThrAlaLeuLeuHisLeuPheHisAlaAlaValGlnArgLysLeuProAspValProAsnProLeuGlnIleLeuTyrIleArgSerIleSerProPheProGluLeuGluGlnPheLeuGlnAspThrIleLysArgTyrAsnLeuGlnMetLeuGluAlaGluGlySerMetLysGlnAlaLeuGlyGluLeuGlnAlaArgHisProGlnLeuGluAlaValLeuMetGlyThrArgArgThrAspProTyrSerCysSerLeuCysProPheSerProThrAspProGlyTrpProAlaPheMetArgIleAsnProLeuLeuAspTrpThrTyrArgAspIleTrpAspPheLeuArgGlnLeuPheValProTyrCysIleLeuTyrAspArgGlyTyrThrSerLeuGlySerArgGluAsnThrValArgAsnProAlaLeuLysCysLeuSerProGlyGlyHisProThrTyrArgProAlaTyrLeuLeuGluAsnGluGluGluGluArgAsnSerArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670931", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000292180.8:c.745C>T" }, "RefSeq": { "hgvs": "NM_025207.5:c.745C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000292180.3:p.Arg249Ter" }, "RefSeq": { "hgvs": "NP_079483.3:p.Arg249Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826149289", "coordinates": [ { "allele": "T", "end": 652, "referenceAllele": "C", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "NM_001184891.2:c.454C>T" ], "proteinEffect": { "hgvs": "NP_001171820.1:p.Arg152Ter", "hgvsWellDefined": "NP_001171820.1:p.Arg152_Gly446delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlySerSerLeuGlyLysLysValAlaGlyAlaLeuGlnThrIleGluThrSerLeuAlaGlnTyrSerLeuThrGlnLeuCysValGlyPheAsnGlyGlyLysAspCysThrAlaLeuLeuHisLeuPheHisAlaAlaValGlnArgLysLeuProAspValProAsnProLeuGlnIleLeuTyrIleArgSerIleSerProPheProGluLeuGluGlnPheLeuGlnAspThrIleLysArgTyrAsnLeuGlnMetLeuGluAlaGluGlySerMetLysGlnAlaLeuGlyGluLeuGlnAlaArgHisProGlnLeuGluAlaValLeuMetGlyThrArgArgThrAspProTyrSerCysSerLeuCysProPheSerProThrAspProGlyTrpProAlaPheMetArgIleAsnProLeuLeuAspTrpThrTyrArgAspIleTrpAspPheLeuArgGlnLeuPheValProTyrCysIleLeuTyrAspArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679033" }, { "@id": "http://reg.genome.network/allele/PA2826149441", "coordinates": [ { "allele": "T", "end": 1291, "referenceAllele": "C", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "NM_001184892.2:c.448C>T" ], "proteinEffect": { "hgvs": "NP_001171821.1:p.Arg150Ter", "hgvsWellDefined": "NP_001171821.1:p.Arg150_Gln294delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlyArgAspLeuMetGluGluGlyHisTyrAlaGlnSerHisTrpTrpHisProArgSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679034" }, { "@id": "http://reg.genome.network/allele/PA2830508352", "coordinates": [ { "allele": "T", "end": 652, "referenceAllele": "C", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN024671", "geneNCBI_id": 80308, "geneSymbol": "FLAD1", "hgvs": [ "NM_201398.3:c.454C>T" ], "proteinEffect": { "hgvs": "NP_958800.1:p.Arg152Ter", "hgvsWellDefined": "NP_958800.1:p.Arg152_Thr490delinsAsnValTyrLeuPheProGlyIleProGluLeuLeuArgArgValLeuGluGlyMetLysGlyLeuPheGlnAsnProAlaValGlnPheHisSerLysGluLeuTyrValAlaAlaAspGluAlaSerIleAlaProIleLeuAlaGluAlaGlnAlaHisPheGlyArgArgLeuGlyLeuGlySerTyrProAspTrpGlySerAsnTyrTyrGlnValLysLeuThrLeuAspSerGluGluGluGlyProLeuGluGluCysLeuAlaTyrLeuThrAlaArgLeuProGlnGlySerLeuValProTyrMetProAsnAlaValGluGlnAlaSerGluAlaValTyrLysLeuAlaGluSerGlySerSerLeuGlyLysLysValAlaGlyAlaLeuGlnThrIleGluThrSerLeuAlaGlnTyrSerLeuThrGlnLeuCysValGlyPheAsnGlyGlyLysAspCysThrAlaLeuLeuHisLeuPheHisAlaAlaValGlnArgLysLeuProAspValProAsnProLeuGlnIleLeuTyrIleArgSerIleSerProPheProGluLeuGluGlnPheLeuGlnAspThrIleLysArgTyrAsnLeuGlnMetLeuGluAlaGluGlySerMetLysGlnAlaLeuGlyGluLeuGlnAlaArgHisProGlnLeuGluAlaValLeuMetGlyThrArgArgThrAspProTyrSerCysSerLeuCysProPheSerProThrAspProGlyTrpProAlaPheMetArgIleAsnProLeuLeuAspTrpThrTyrArgAspIleTrpAspPheLeuArgGlnLeuPheValProTyrCysIleLeuTyrAspArgGlyTyrThrSerLeuGlySerArgGluAsnThrValArgAsnProAlaLeuLysCysLeuSerProGlyGlyHisProThrTyrArgProAlaTyrLeuLeuGluAsnGluGluGluGluArgAsnSerArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701539" } ], "type": "nucleotide" }