{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351995310", "communityStandardTitle": [ "NM_000404.4(GLB1):c.275G>A (p.Trp92Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3717469[alleleid]", "alleleId": 3717469, "preferredName": "NM_000404.4(GLB1):c.275G>A (p.Trp92Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3589141", "RCV": [ "RCV005035308" ], "variationId": 3589141 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.33110433C>T?assembly=hg19", "id": "chr3:g.33110433C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.33068941C>T?assembly=hg38", "id": "chr3:g.33068941C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1163319503", "rs": 1163319503 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-33110433-C-T?dataset=gnomad_r2_1", "id": 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"NP_000395.2:p.Trp92_Val677delinsProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006465" }, { "@id": "http://reg.genome.network/allele/PA645384184", "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.3:c.275G>A" ], "proteinEffect": { "hgvs": "NP_000395.2:p.Trp92Ter", "hgvsWellDefined": "NP_000395.2:p.Trp92_Val677delinsProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006466" }, { "coordinates": [ { "allele": "A", "end": 304, "referenceAllele": "G", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.1:c.185G>A" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Trp62Ter", "hgvsWellDefined": "NP_001073279.1:p.Trp62_Val647delinsProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010094" }, { "coordinates": [ { "allele": "A", "end": 314, "referenceAllele": "G", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.2:c.185G>A" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Trp62Ter", "hgvsWellDefined": "NP_001073279.1:p.Trp62_Val647delinsProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010095" }, { "coordinates": [ { "allele": "A", "end": 362, "endIntronDirection": "-", "endIntronOffset": 3383, "referenceAllele": "G", "start": 362, "startIntronDirection": "-", "startIntronOffset": 3384 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.1:c.246-3384G>A" ], "proteinEffect": { "hgvs": "NP_001129074.1:n.246-3384G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS012431" }, { "coordinates": [ { "allele": "A", "end": 390, "endIntronDirection": "-", "endIntronOffset": 3383, "referenceAllele": "G", "start": 390, "startIntronDirection": "-", "startIntronOffset": 3384 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.2:c.246-3384G>A" ], "proteinEffect": { "hgvs": "NP_001129074.1:n.246-3384G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS012432" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.1:c.419G>A" ], "proteinEffect": { "hgvs": "NP_001303969.1:p.Trp140Ter", "hgvsWellDefined": "NP_001303969.1:p.Trp140_Val725delinsProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026699" }, { "@id": "http://reg.genome.network/allele/PA915965478", "coordinates": [ { "allele": "A", "end": 336, "referenceAllele": "G", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.4:c.275G>A" ], "proteinEffect": { "hgvs": "NP_000395.3:p.Trp92Ter", "hgvsWellDefined": "NP_000395.3:p.Trp92_Val677delinsProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000307363.10:c.275G>A" }, "RefSeq": { "hgvs": "NM_000404.4:c.275G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306920.4:p.Trp92Ter" }, "RefSeq": { "hgvs": "NP_000395.3:p.Trp92Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825444463", "coordinates": [ { "allele": "A", "end": 304, "referenceAllele": "G", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.3:c.185G>A" ], "proteinEffect": { "hgvs": "NP_001073279.2:p.Trp62Ter", "hgvsWellDefined": "NP_001073279.2:p.Trp62_Val647delinsProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711783" }, { "coordinates": [ { "allele": "A", "end": 306, "endIntronDirection": "-", "endIntronOffset": 3383, "referenceAllele": "G", "start": 306, "startIntronDirection": "-", "startIntronOffset": 3384 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.3:c.246-3384G>A" ], "proteinEffect": { "hgvs": "NP_001129074.2:n.246-3384G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS712445" }, { "@id": "http://reg.genome.network/allele/PA2826964549", "coordinates": [ { "allele": "A", "end": 480, "referenceAllele": "G", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.2:c.419G>A" ], "proteinEffect": { "hgvs": "NP_001303969.2:p.Trp140Ter", "hgvsWellDefined": "NP_001303969.2:p.Trp140_Val725delinsProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717394" }, { "@id": "http://reg.genome.network/allele/PA2573080310", "coordinates": [ { "allele": "A", "end": 336, "referenceAllele": "G", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001393580.1:c.275G>A" ], "proteinEffect": { "hgvs": "NP_001380509.1:p.Trp92Ter", "hgvsWellDefined": "NP_001380509.1:p.Trp92_Gly588delinsProGlyGlnTyrGlnPheSerGluAspHisAspValGluTyrPheLeuArgLeuAlaHisGluLeuGlyLeuLeuValIleLeuArgProGlyProTyrIleCysAlaGluTrpGluMetGlyGlyLeuProAlaTrpLeuLeuGluLysGluSerIleLeuLeuArgSerSerAspProAspTyrLeuAlaAlaValAspLysTrpLeuGlyValLeuLeuProLysMetLysProLeuLeuTyrGlnAsnGlyGlyProValIleThrValGlnValGluAsnGluTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysAspGluGlyAspGlySerSerPheProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726736" } ], "type": "nucleotide" }