{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA203254276", "communityStandardTitle": [ "NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=481865[alleleid]", "alleleId": 481865, "preferredName": "NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/489125", "RCV": [ "RCV000578674", "RCV000778273", "RCV001860012" ], "variationId": 489125 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.13151249C>T?assembly=hg19", "id": "chr10:g.13151249C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.13109249C>T?assembly=hg38", "id": "chr10:g.13109249C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/934287314", "rs": 934287314 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-13151249-C-T?dataset=gnomad_r2_1", "id": "10-13151249-C-T", "variant": "10:13151249 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-13109249-C-T?dataset=gnomad_r3", "id": "10-13109249-C-T", "variant": "10:13109249 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-13109249-C-T?dataset=gnomad_r4", "id": "10-13109249-C-T", "variant": "10:13109249 C / T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 13109249, "referenceAllele": "C", "start": 13109248 } ], "hgvs": [ "NC_000010.11:g.13109249C>T", "CM000672.2:g.13109249C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 13151249, "referenceAllele": "C", "start": 13151248 } ], "hgvs": [ "NC_000010.10:g.13151249C>T", "CM000672.1:g.13151249C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 13191255, "referenceAllele": "C", "start": 13191254 } ], "hgvs": [ "NC_000010.9:g.13191255C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 14168, "referenceAllele": "C", "start": 14167 } ], "hgvs": [ "NG_012876.1:g.14168C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002600" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "ENST00000378747.8:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000368021.3:p.Gln43Ter", "hgvsWellDefined": "ENSP00000368021.3:p.Gln43_Ile577delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluAlaMetLysLeuAsnAsnGlnAlaMetLysGlyArgPheGluGluLeuSerAlaTrpThrGluLysGlnLysGluGluArgGlnPhePheGluIleGlnSerLysGluAlaLysGluArgLeuMetAlaLeuSerHisGluAsnGluLysLeuLysGluGluLeuGlyLysLeuLysGlyLysSerGluArgSerSerGluAspProThrAspAspSerArgLeuProArgAlaGluAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752130", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378747.8:c.127C>T" }, "RefSeq": { "hgvs": "NM_001008212.2:c.127C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000368021.3:p.Gln43Ter" }, "RefSeq": { "hgvs": "NP_001008213.1:p.Gln43Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 800, "referenceAllele": "C", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "ENST00000263036.9:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000263036.3:p.Gln43Ter", "hgvsWellDefined": "ENSP00000263036.3:p.Gln43_Ile577delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluAlaMetLysLeuAsnAsnGlnAlaMetLysGlyArgPheGluGluLeuSerAlaTrpThrGluLysGlnLysGluGluArgGlnPhePheGluIleGlnSerLysGluAlaLysGluArgLeuMetAlaLeuSerHisGluAsnGluLysLeuLysGluGluLeuGlyLysLeuLysGlyLysSerGluArgSerSerGluAspProThrAspAspSerArgLeuProArgAlaGluAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251169" }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "C", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "ENST00000378747.7:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000368021.3:p.Gln43Ter", "hgvsWellDefined": "ENSP00000368021.3:p.Gln43_Ile577delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluAlaMetLysLeuAsnAsnGlnAlaMetLysGlyArgPheGluGluLeuSerAlaTrpThrGluLysGlnLysGluGluArgGlnPhePheGluIleGlnSerLysGluAlaLysGluArgLeuMetAlaLeuSerHisGluAsnGluLysLeuLysGluGluLeuGlyLysLeuLysGlyLysSerGluArgSerSerGluAspProThrAspAspSerArgLeuProArgAlaGluAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272184" }, { "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "C", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "ENST00000378748.7:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000368022.3:p.Gln43Ter", "hgvsWellDefined": "ENSP00000368022.3:p.Gln43_Ile577delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluAlaMetLysLeuAsnAsnGlnAlaMetLysGlyArgPheGluGluLeuSerAlaTrpThrGluLysGlnLysGluGluArgGlnPhePheGluIleGlnSerLysGluAlaLysGluArgLeuMetAlaLeuSerHisGluAsnGluLysLeuLysGluGluLeuGlyLysLeuLysGlyLysSerGluArgSerSerGluAspProThrAspAspSerArgLeuProArgAlaGluAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272185" }, { "coordinates": [ { "allele": "T", "end": 474, "referenceAllele": "C", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "ENST00000378752.7:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000368027.3:p.Gln43Ter", "hgvsWellDefined": "ENSP00000368027.3:p.Gln43_Ile571delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluAlaMetLysLeuAsnAsnGlnAlaMetLysGlyArgPheGluGluLeuSerAlaTrpThrGluLysGlnLysGluGluArgGlnPhePheGluIleGlnSerLysGluAlaLysGluArgLeuMetAlaLeuSerHisGluAsnGluLysLeuLysGluGluLeuGlyLysLeuLysGlyLysSerGluArgSerSerGluAspProThrAspAspSerArgLeuProArgAlaGluAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272187" }, { "coordinates": [ { "allele": "T", "end": 272, "referenceAllele": "C", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "ENST00000378757.6:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000368032.2:p.Gln43Ter", "hgvsWellDefined": "ENSP00000368032.2:p.Gln43_Ile577delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluAlaMetLysLeuAsnAsnGlnAlaMetLysGlyArgPheGluGluLeuSerAlaTrpThrGluLysGlnLysGluGluArgGlnPhePheGluIleGlnSerLysGluAlaLysGluArgLeuMetAlaLeuSerHisGluAsnGluLysLeuLysGluGluLeuGlyLysLeuLysGlyLysSerGluArgSerSerGluAspProThrAspAspSerArgLeuProArgAlaGluAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272190" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "C", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "ENST00000378764.6:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000368040.1:p.Gln43Ter", "hgvsWellDefined": "ENSP00000368040.1:p.Gln43_Ile571delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluAlaMetLysLeuAsnAsnGlnAlaMetLysGlyArgPheGluGluLeuSerAlaTrpThrGluLysGlnLysGluGluArgGlnPhePheGluIleGlnSerLysGluAlaLysGluArgLeuMetAlaLeuSerHisGluAsnGluLysLeuLysGluGluLeuGlyLysLeuLysGlyLysSerGluArgSerSerGluAspProThrAspAspSerArgLeuProArgAlaGluAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272192" }, { "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "ENST00000430081.5:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000414747.2:p.Gln43Ter", "hgvsWellDefined": "ENSP00000414747.2:p.Gln43_Asp62delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluProCysGlyGlnValAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290971" }, { "coordinates": [ { "allele": "T", "end": 278, "referenceAllele": "C", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "ENST00000482140.5:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000484961.1:p.Gln43Ter", "hgvsWellDefined": "ENSP00000484961.1:p.Gln43_His58delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGlyProHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS321907" }, { "coordinates": [ { "allele": "T", "end": 282, "referenceAllele": "C", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "ENST00000487935.1:n.282C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS326373" }, { "@id": "http://reg.genome.network/allele/PA2825289965", "coordinates": [ { "allele": "T", "end": 580, "referenceAllele": "C", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "NM_001008211.1:c.127C>T" ], "proteinEffect": { "hgvs": "NP_001008212.1:p.Gln43Ter", "hgvsWellDefined": "NP_001008212.1:p.Gln43_Ile577delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluAlaMetLysLeuAsnAsnGlnAlaMetLysGlyArgPheGluGluLeuSerAlaTrpThrGluLysGlnLysGluGluArgGlnPhePheGluIleGlnSerLysGluAlaLysGluArgLeuMetAlaLeuSerHisGluAsnGluLysLeuLysGluGluLeuGlyLysLeuLysGlyLysSerGluArgSerSerGluAspProThrAspAspSerArgLeuProArgAlaGluAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007962" }, { "@id": "http://reg.genome.network/allele/PA2825290218", "coordinates": [ { "allele": "T", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "NM_001008212.1:c.127C>T" ], "proteinEffect": { "hgvs": "NP_001008213.1:p.Gln43Ter", "hgvsWellDefined": "NP_001008213.1:p.Gln43_Ile577delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluAlaMetLysLeuAsnAsnGlnAlaMetLysGlyArgPheGluGluLeuSerAlaTrpThrGluLysGlnLysGluGluArgGlnPhePheGluIleGlnSerLysGluAlaLysGluArgLeuMetAlaLeuSerHisGluAsnGluLysLeuLysGluGluLeuGlyLysLeuLysGlyLysSerGluArgSerSerGluAspProThrAspAspSerArgLeuProArgAlaGluAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007963" }, { "@id": "http://reg.genome.network/allele/PA2825290472", "coordinates": [ { "allele": "T", "end": 565, "referenceAllele": "C", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "NM_001008213.1:c.127C>T" ], "proteinEffect": { "hgvs": "NP_001008214.1:p.Gln43Ter", "hgvsWellDefined": "NP_001008214.1:p.Gln43_Ile577delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluAlaMetLysLeuAsnAsnGlnAlaMetLysGlyArgPheGluGluLeuSerAlaTrpThrGluLysGlnLysGluGluArgGlnPhePheGluIleGlnSerLysGluAlaLysGluArgLeuMetAlaLeuSerHisGluAsnGluLysLeuLysGluGluLeuGlyLysLeuLysGlyLysSerGluArgSerSerGluAspProThrAspAspSerArgLeuProArgAlaGluAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007964" }, { "@id": "http://reg.genome.network/allele/PA658727628", "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "NM_021980.4:c.127C>T" ], "proteinEffect": { "hgvs": "NP_068815.2:p.Gln43Ter", "hgvsWellDefined": "NP_068815.2:p.Gln43_Ile577delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluAlaMetLysLeuAsnAsnGlnAlaMetLysGlyArgPheGluGluLeuSerAlaTrpThrGluLysGlnLysGluGluArgGlnPhePheGluIleGlnSerLysGluAlaLysGluArgLeuMetAlaLeuSerHisGluAsnGluLysLeuLysGluGluLeuGlyLysLeuLysGlyLysSerGluArgSerSerGluAspProThrAspAspSerArgLeuProArgAlaGluAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037130" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "C", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "XM_005252336.2:c.127C>T" ], "proteinEffect": { "hgvs": "XP_005252393.2:p.Gln43Ter", "hgvsWellDefined": "XP_005252393.2:p.Gln43_Ile571delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluAlaMetLysLeuAsnAsnGlnAlaMetLysGlyArgPheGluGluLeuSerAlaTrpThrGluLysGlnLysGluGluArgGlnPhePheGluIleGlnSerLysGluAlaLysGluArgLeuMetAlaLeuSerHisGluAsnGluLysLeuLysGluGluLeuGlyLysLeuLysGlyLysSerGluArgSerSerGluAspProThrAspAspSerArgLeuProArgAlaGluAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059904" }, { "coordinates": [ { "allele": "T", "end": 531, "referenceAllele": "C", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "XM_005252337.3:c.127C>T" ], "proteinEffect": { "hgvs": "XP_005252394.2:p.Gln43Ter", "hgvsWellDefined": "XP_005252394.2:p.Gln43_Ile571delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluAlaMetLysLeuAsnAsnGlnAlaMetLysGlyArgPheGluGluLeuSerAlaTrpThrGluLysGlnLysGluGluArgGlnPhePheGluIleGlnSerLysGluAlaLysGluArgLeuMetAlaLeuSerHisGluAsnGluLysLeuLysGluGluLeuGlyLysLeuLysGlyLysSerGluArgSerSerGluAspProThrAspAspSerArgLeuProArgAlaGluAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059905" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "XM_005252338.2:c.-139C>T" ], "proteinEffect": { "hgvs": "XP_005252395.2:n.-139C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS059906" }, { "@id": "http://reg.genome.network/allele/PA2825290218", "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN017142", "geneNCBI_id": 10133, "geneSymbol": "OPTN", "hgvs": [ "NM_001008212.2:c.127C>T" ], "proteinEffect": { "hgvs": "NP_001008213.1:p.Gln43Ter", "hgvsWellDefined": "NP_001008213.1:p.Gln43_Ile577delinsMetLysGluLeuLeuThrGluAsnHisGlnLeuLysGluAlaMetLysLeuAsnAsnGlnAlaMetLysGlyArgPheGluGluLeuSerAlaTrpThrGluLysGlnLysGluGluArgGlnPhePheGluIleGlnSerLysGluAlaLysGluArgLeuMetAlaLeuSerHisGluAsnGluLysLeuLysGluGluLeuGlyLysLeuLysGlyLysSerGluArgSerSerGluAspProThrAspAspSerArgLeuProArgAlaGluAlaGluGlnGluLysAspGlnLeuArgThrGlnValValArgLeuGlnAlaGluLysAlaAspLeuLeuGlyIleValSerGluLeuGlnLeuLysLeuAsnSerSerGlySerSerGluAspSerPheValGluIleArgMetAlaGluGlyGluAlaGluGlySerValLysGluIleLysHisSerProGlyProThrArgThrValSerThrGlyThrAlaLeuSerLysTyrArgSerArgSerAlaAspGlyAlaLysAsnTyrPheGluHisGluGluLeuThrValSerGlnLeuLeuLeuCysLeuArgGluGlyAsnGlnLysValGluArgLeuGluValAlaLeuLysGluAlaLysGluArgValSerAspPheGluLysLysThrSerAsnArgSerGluIleGluThrGlnThrGluGlySerThrGluLysGluAsnAspGluGluLysGlyProGluThrValGlySerGluValGluAlaLeuAsnLeuGlnValThrSerLeuPheLysGluLeuGlnGluAlaHisThrLysLeuSerGluAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662808", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378747.8:c.127C>T" }, "RefSeq": { "hgvs": "NM_001008212.2:c.127C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000368021.3:p.Gln43Ter" }, "RefSeq": { "hgvs": "NP_001008213.1:p.Gln43Ter" } } } } ], "type": "nucleotide" }