{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA352002661", "communityStandardTitle": [ "NM_000404.4(GLB1):c.775G>T (p.Glu259Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=971846[alleleid]", "alleleId": 971846, "preferredName": "NM_000404.4(GLB1):c.775G>T (p.Glu259Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983743", "RCV": [ "RCV001263746" ], "variationId": 983743 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.33095000C>A?assembly=hg19", "id": "chr3:g.33095000C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.33053508C>A?assembly=hg38", "id": "chr3:g.33053508C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1699086565", "rs": 1699086565 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 33053508, "referenceAllele": "C", "start": 33053507 } ], "hgvs": [ "NC_000003.12:g.33053508C>A", "CM000665.2:g.33053508C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 33095000, "referenceAllele": "C", "start": 33094999 } ], "hgvs": [ "NC_000003.11:g.33095000C>A", "CM000665.1:g.33095000C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 33070004, "referenceAllele": "C", "start": 33070003 } ], "hgvs": [ "NC_000003.10:g.33070004C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 48695, "referenceAllele": "G", "start": 48694 } ], "hgvs": [ "NG_009005.1:g.48695G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001373" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 836, "referenceAllele": "G", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000307363.10:c.775G>T" ], "proteinEffect": { "hgvs": "ENSP00000306920.4:p.Glu259Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS745364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000307363.10:c.775G>T" }, "RefSeq": { "hgvs": "NM_000404.4:c.775G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306920.4:p.Glu259Ter" }, "RefSeq": { "hgvs": "NP_000395.3:p.Glu259Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 920, "referenceAllele": "G", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000307363.9:c.775G>T" ], "proteinEffect": { "hgvs": "ENSP00000306920.4:p.Glu259Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS255876" }, { "coordinates": [ { "allele": "T", "end": 443, "referenceAllele": "G", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000307377.12:c.382G>T" ], "proteinEffect": { "hgvs": "ENSP00000305920.8:p.Glu128Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS255881" }, { "coordinates": [ { "allele": "T", "end": 817, "referenceAllele": "G", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000399402.7:c.685G>T" ], "proteinEffect": { "hgvs": "ENSP00000382333.2:p.Glu229Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS278664" }, { "coordinates": [ { "allele": "T", "end": 334, "referenceAllele": "G", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000415454.1:c.298G>T" ], "proteinEffect": { "hgvs": "ENSP00000411813.1:p.Glu100Ter", "hgvsWellDefined": "ENSP00000411813.1:p.Glu100_Thr185del" }, "referenceSequence": "http://reg.genome.network/refseq/RS283995" }, { "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "G", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000438227.1:c.*267G>T" ], "proteinEffect": { "hgvs": "ENSP00000401250.1:n.*267G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS294824" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "G", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000446732.5:c.*218G>T" ], "proteinEffect": { "hgvs": "ENSP00000407365.1:n.*218G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS298869" }, { "coordinates": [ { "allele": "T", "end": 150, "referenceAllele": "G", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000482097.5:n.150G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321877" }, { "coordinates": [ { "allele": "T", "end": 178, "referenceAllele": "G", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000485698.5:n.178G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324665" }, { "coordinates": [ { "allele": "T", "end": 174, "referenceAllele": "G", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000498537.5:n.174G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS334527" }, { "coordinates": [ { "allele": "T", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.2:c.775G>T" ], "proteinEffect": { "hgvs": "NP_000395.2:p.Glu259Ter", "hgvsWellDefined": "NP_000395.2:p.Glu259_Val677delinsProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006465" }, { "coordinates": [ { "allele": "T", "end": 920, "referenceAllele": "G", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.3:c.775G>T" ], "proteinEffect": { "hgvs": "NP_000395.2:p.Glu259Ter", "hgvsWellDefined": "NP_000395.2:p.Glu259_Val677delinsProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006466" }, { "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "G", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.1:c.685G>T" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Glu229Ter", "hgvsWellDefined": "NP_001073279.1:p.Glu229_Val647delinsProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010094" }, { "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "G", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.2:c.685G>T" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Glu229Ter", "hgvsWellDefined": "NP_001073279.1:p.Glu229_Val647delinsProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010095" }, { "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "G", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.1:c.382G>T" ], "proteinEffect": { "hgvs": "NP_001129074.1:p.Glu128Ter", "hgvsWellDefined": "NP_001129074.1:p.Glu128_Val546delinsProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012431" }, { "coordinates": [ { "allele": "T", "end": 527, "referenceAllele": "G", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.2:c.382G>T" ], "proteinEffect": { "hgvs": "NP_001129074.1:p.Glu128Ter", "hgvsWellDefined": "NP_001129074.1:p.Glu128_Val546delinsProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012432" }, { "coordinates": [ { "allele": "T", "end": 1064, "referenceAllele": "G", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.1:c.919G>T" ], "proteinEffect": { "hgvs": "NP_001303969.1:p.Glu307Ter", "hgvsWellDefined": "NP_001303969.1:p.Glu307_Val725delinsProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026699" }, { "@id": "http://reg.genome.network/allele/PA2825162386", "coordinates": [ { "allele": "T", "end": 836, "referenceAllele": "G", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.4:c.775G>T" ], "proteinEffect": { "hgvs": "NP_000395.3:p.Glu259Ter", "hgvsWellDefined": "NP_000395.3:p.Glu259_Val677delinsProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000307363.10:c.775G>T" }, "RefSeq": { "hgvs": "NM_000404.4:c.775G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306920.4:p.Glu259Ter" }, "RefSeq": { "hgvs": "NP_000395.3:p.Glu259Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825444661", "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "G", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.3:c.685G>T" ], "proteinEffect": { "hgvs": "NP_001073279.2:p.Glu229Ter", "hgvsWellDefined": "NP_001073279.2:p.Glu229_Val647delinsProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711783" }, { "@id": "http://reg.genome.network/allele/PA2825794009", "coordinates": [ { "allele": "T", "end": 443, "referenceAllele": "G", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.3:c.382G>T" ], "proteinEffect": { "hgvs": "NP_001129074.2:p.Glu128Ter", "hgvsWellDefined": "NP_001129074.2:p.Glu128_Val546delinsProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712445" }, { "@id": "http://reg.genome.network/allele/PA1139698956", "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "G", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.2:c.919G>T" ], "proteinEffect": { "hgvs": "NP_001303969.2:p.Glu307Ter", "hgvsWellDefined": "NP_001303969.2:p.Glu307_Val725delinsProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717394" }, { "coordinates": [ { "allele": "T", "end": 836, "referenceAllele": "G", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001393580.1:c.775G>T" ], "proteinEffect": { "hgvs": "NP_001380509.1:p.Glu259Ter", "hgvsWellDefined": "NP_001380509.1:p.Glu259_Gly588delinsProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysAspGluGlyAspGlySerSerPheProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726736" } ], "type": "nucleotide" }