{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA341319997", "communityStandardTitle": [ "NM_000642.3(AGL):c.2277C>A (p.Tyr759Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1784145[alleleid]", "alleleId": 1784145, "preferredName": "NM_000642.3(AGL):c.2277C>A (p.Tyr759Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1726618", "RCV": [ "RCV002310302" ], "variationId": 1726618 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.100347216C>A?assembly=hg19", "id": "chr1:g.100347216C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.99881660C>A?assembly=hg38", "id": "chr1:g.99881660C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2100760610", "rs": 2100760610 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 99881660, "referenceAllele": "C", "start": 99881659 } ], "hgvs": [ "NC_000001.11:g.99881660C>A", "CM000663.2:g.99881660C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 100347216, "referenceAllele": "C", "start": 100347215 } ], "hgvs": [ "NC_000001.10:g.100347216C>A", "CM000663.1:g.100347216C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 100119804, "referenceAllele": "C", "start": 100119803 } ], "hgvs": [ "NC_000001.9:g.100119804C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 36577, "referenceAllele": "C", "start": 36576 } ], "hgvs": [ "NG_012865.1:g.36577C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002592" } ], "transcriptAlleles": [ { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS749563", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361915.8:c.2277C>A" }, "RefSeq": { "hgvs": "NM_000642.3:c.2277C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355106.3:p.Tyr759Ter" }, "RefSeq": { "hgvs": "NP_000633.2:p.Tyr759Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2488, "referenceAllele": "C", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000637337.1:n.2488C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763793" }, { "coordinates": [ { "allele": "A", "end": 2755, "referenceAllele": "C", "start": 2754 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000294724.8:c.2277C>A" ], "proteinEffect": { "hgvs": "ENSP00000294724.4:p.Tyr759Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS253994" }, { "coordinates": [ { "allele": "A", "end": 2488, "referenceAllele": "C", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361302.7:c.2229C>A" ], "proteinEffect": { "hgvs": "ENSP00000354971.3:p.Tyr743Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS265423" }, { "coordinates": [ { "allele": "A", "end": 2488, "referenceAllele": "C", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361522.4:c.2226C>A" ], "proteinEffect": { "hgvs": "ENSP00000354635.4:p.Tyr742Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS265519" }, { "coordinates": [ { "allele": "A", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361915.7:c.2277C>A" ], "proteinEffect": { "hgvs": "ENSP00000355106.3:p.Tyr759Ter", "hgvsWellDefined": "ENSP00000355106.3:p.Tyr759_Leu1532delinsSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265709" }, { "coordinates": [ { "allele": "A", "end": 2229, "referenceAllele": "C", "start": 2228 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000370161.6:c.2229C>A" ], "proteinEffect": { "hgvs": "ENSP00000359180.2:p.Tyr743Ter", "hgvsWellDefined": "ENSP00000359180.2:p.Tyr743_Leu1516delinsSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267908" }, { "coordinates": [ { "allele": "A", "end": 2475, "referenceAllele": "C", "start": 2474 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000370163.7:c.2277C>A" ], "proteinEffect": { "hgvs": "ENSP00000359182.3:p.Tyr759Ter", "hgvsWellDefined": "ENSP00000359182.3:p.Tyr759_Leu1532delinsSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267910" }, { "coordinates": [ { "allele": "A", "end": 2415, "referenceAllele": "C", "start": 2414 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000370165.7:c.2277C>A" ], "proteinEffect": { "hgvs": "ENSP00000359184.3:p.Tyr759Ter", "hgvsWellDefined": "ENSP00000359184.3:p.Tyr759_Leu1532delinsSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267911" }, { "@id": "http://reg.genome.network/allele/PA2825006763", "coordinates": [ { "allele": "A", "end": 2755, "referenceAllele": "C", "start": 2754 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000028.2:c.2277C>A" ], "proteinEffect": { "hgvs": "NP_000019.2:p.Tyr759Ter", "hgvsWellDefined": "NP_000019.2:p.Tyr759_Leu1532delinsSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006093" }, { "@id": "http://reg.genome.network/allele/PA2825217610", "coordinates": [ { "allele": "A", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000642.2:c.2277C>A" ], "proteinEffect": { "hgvs": "NP_000633.2:p.Tyr759Ter", "hgvsWellDefined": "NP_000633.2:p.Tyr759_Leu1532delinsSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006693" }, { "@id": "http://reg.genome.network/allele/PA2825223103", "coordinates": [ { "allele": "A", "end": 2475, "referenceAllele": "C", "start": 2474 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000643.2:c.2277C>A" ], "proteinEffect": { "hgvs": "NP_000634.2:p.Tyr759Ter", "hgvsWellDefined": "NP_000634.2:p.Tyr759_Leu1532delinsSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006694" }, { "@id": "http://reg.genome.network/allele/PA2580122053", "coordinates": [ { "allele": "A", "end": 2415, "referenceAllele": "C", "start": 2414 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000644.2:c.2277C>A" ], "proteinEffect": { "hgvs": "NP_000635.2:p.Tyr759Ter", "hgvsWellDefined": "NP_000635.2:p.Tyr759_Leu1532delinsSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006695" }, { "coordinates": [ { "allele": "A", "end": 2488, "referenceAllele": "C", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000645.2:c.2226C>A" ], "proteinEffect": { "hgvs": "NP_000636.2:p.Tyr742Ter", "hgvsWellDefined": "NP_000636.2:p.Tyr742_Leu1515delinsSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006696" }, { "@id": "http://reg.genome.network/allele/PA2825232991", "coordinates": [ { "allele": "A", "end": 2488, "referenceAllele": "C", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000646.2:c.2229C>A" ], "proteinEffect": { "hgvs": "NP_000637.2:p.Tyr743Ter", "hgvsWellDefined": "NP_000637.2:p.Tyr743_Leu1516delinsSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006697" }, { "coordinates": [ { "allele": "A", "end": 2370, "referenceAllele": "C", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_005270557.1:c.2277C>A" ], "proteinEffect": { "hgvs": "XP_005270614.1:p.Tyr759Ter", "hgvsWellDefined": "XP_005270614.1:p.Tyr759_Leu1532delinsSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066566" }, { "coordinates": [ { "allele": "A", "end": 2370, "referenceAllele": "C", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_005270557.2:c.2277C>A" ], "proteinEffect": { "hgvs": "XP_005270614.1:p.Tyr759Ter", "hgvsWellDefined": "XP_005270614.1:p.Tyr759_Leu1532delinsSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536956" }, { "coordinates": [ { "allele": "A", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_017000501.2:c.537C>A" ], "proteinEffect": { "hgvs": "XP_016855990.1:p.Tyr179Ter", "hgvsWellDefined": "XP_016855990.1:p.Tyr179_Leu952delinsSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556866" }, { "@id": "http://reg.genome.network/allele/PA2825217610", "coordinates": [ { "allele": "A", "end": 2400, "referenceAllele": "C", "start": 2399 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000642.3:c.2277C>A" ], "proteinEffect": { "hgvs": "NP_000633.2:p.Tyr759Ter", "hgvsWellDefined": "NP_000633.2:p.Tyr759_Leu1532delinsSerLysGluValProGlnMetCysIleProGlyLysIleGluGluValValLeuGluAlaArgThrIleGluArgAsnThrLysProTyrArgLysAspGluAsnSerIleAsnGlyThrProAspIleThrValGluIleArgGluHisIleGlnLeuAsnGluSerLysIleValLysGlnAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662520", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361915.8:c.2277C>A" }, "RefSeq": { "hgvs": "NM_000642.3:c.2277C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355106.3:p.Tyr759Ter" }, "RefSeq": { "hgvs": "NP_000633.2:p.Tyr759Ter" } } } } ], "type": "nucleotide" }