{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA360802958", "communityStandardTitle": [ "NM_003060.4(SLC22A5):c.391G>T (p.Glu131Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=543582[alleleid]", "alleleId": 543582, "preferredName": "NM_003060.4(SLC22A5):c.391G>T (p.Glu131Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/550619", "RCV": [ "RCV000665409" ], "variationId": 550619 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.131706055G>T?assembly=hg19", "id": "chr5:g.131706055G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.132370363G>T?assembly=hg38", "id": "chr5:g.132370363G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1321705165", "rs": 1321705165 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-132370363-G-T?dataset=gnomad_r4", "id": "5-132370363-G-T", "variant": "5:132370363 G / T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 132370363, "referenceAllele": "G", "start": 132370362 } ], "hgvs": [ "NC_000005.10:g.132370363G>T", "CM000667.2:g.132370363G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 131706055, "referenceAllele": "G", "start": 131706054 } ], "hgvs": [ "NC_000005.9:g.131706055G>T", "CM000667.1:g.131706055G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 131733954, "referenceAllele": "G", "start": 131733953 } ], "hgvs": [ "NC_000005.8:g.131733954G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 5655, "referenceAllele": "G", 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"ENSP00000388838.2:p.Glu131_Glu431delinsTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824654" }, { "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "G", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000435065.7:c.391G>T" ], "proteinEffect": { "hgvs": "ENSP00000402760.2:p.Glu131Ter", "hgvsWellDefined": "ENSP00000402760.2:p.Glu131_Phe581delinsGlnAspSerGlyAlaTyrAsnAlaMetLysAsnArgMetGlyLysLysProAlaLeuCysLeuProAlaGlnTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824868" }, { "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000448810.6:c.391G>T" ], "proteinEffect": { "hgvs": "ENSP00000401860.2:p.Glu131Ter", "hgvsWellDefined": "ENSP00000401860.2:p.Glu131_Gly353delinsTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuCysAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824998" }, { "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000686757.1:c.391G>T" ], "proteinEffect": { "hgvs": "ENSP00000510721.1:p.Glu131Ter", "hgvsWellDefined": "ENSP00000510721.1:p.Glu131_Pro284delinsTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValValHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830725" }, { "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000687740.1:n.525G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831241" }, { "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000689271.1:c.391G>T" ], "proteinEffect": { "hgvs": "ENSP00000510797.1:p.Glu131Ter", "hgvsWellDefined": "ENSP00000510797.1:p.Glu131_Phe506delinsTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832084" }, { "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000690900.1:c.391G>T" ], "proteinEffect": { "hgvs": "ENSP00000510703.1:p.Glu131Ter", "hgvsWellDefined": "ENSP00000510703.1:p.Glu131_Pro268delinsTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValValHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832936" }, { "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000692413.1:c.391G>T" ], "proteinEffect": { "hgvs": "ENSP00000509374.1:p.Glu131Ter", "hgvsWellDefined": "ENSP00000509374.1:p.Glu131_Phe551delinsTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833710" }, { "coordinates": [ { "allele": "T", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000692825.1:c.391G>T" ], "proteinEffect": { "hgvs": "ENSP00000509447.1:p.Glu131Ter", "hgvsWellDefined": "ENSP00000509447.1:p.Glu131_Leu138delinsThrValGlyProThrMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833907" }, { "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000693308.1:c.391G>T" ], "proteinEffect": { "hgvs": "ENSP00000509770.1:p.Glu131Ter", "hgvsWellDefined": "ENSP00000509770.1:p.Glu131_Phe573delinsTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValGlyGlyLeuThrGluIleGlyProCysThrAlaArgPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834175" }, { "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000693763.1:n.525G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834419" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000245407.8:c.391G>T" ], "proteinEffect": { "hgvs": "ENSP00000245407.3:p.Glu131Ter", "hgvsWellDefined": "ENSP00000245407.3:p.Glu131_Phe557delinsTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741243", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000245407.8:c.391G>T" }, "RefSeq": { "hgvs": "NM_003060.4:c.391G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000245407.3:p.Glu131Ter" }, "RefSeq": { "hgvs": "NP_003051.1:p.Glu131Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000245407.7:c.391G>T" ], "proteinEffect": { "hgvs": "ENSP00000245407.3:p.Glu131Ter", "hgvsWellDefined": "ENSP00000245407.3:p.Glu131_Phe557delinsTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249376" }, { "coordinates": [ { "allele": "T", "end": 88, "referenceAllele": "G", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000415928.5:c.88G>T" ], "proteinEffect": { "hgvs": "ENSP00000388838.1:p.Glu30Ter", "hgvsWellDefined": "ENSP00000388838.1:p.Glu30_Glu240del" }, "referenceSequence": "http://reg.genome.network/refseq/RS284222" }, { "coordinates": [ { "allele": "T", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000435065.6:c.391G>T" ], "proteinEffect": { "hgvs": "ENSP00000402760.2:p.Glu131Ter", "hgvsWellDefined": "ENSP00000402760.2:p.Glu131_Phe581delinsGlnAspSerGlyAlaTyrAsnAlaMetLysAsnArgMetGlyLysLysProAlaLeuCysLeuProAlaGlnTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS293343" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "G", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000437841.6:c.391G>T" ], "proteinEffect": { "hgvs": "ENSP00000400553.1:p.Glu131Ter", "hgvsWellDefined": "ENSP00000400553.1:p.Glu131_Val141delinsGlyGlnLysPheLeuAlaSerGlnPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294648" }, { "@id": "http://reg.genome.network/allele/PA2826924222", "coordinates": [ { "allele": "T", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_001308122.1:c.391G>T" ], "proteinEffect": { "hgvs": "NP_001295051.1:p.Glu131Ter", "hgvsWellDefined": "NP_001295051.1:p.Glu131_Phe581delinsGlnAspSerGlyAlaTyrAsnAlaMetLysAsnArgMetGlyLysLysProAlaLeuCysLeuProAlaGlnTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026154" }, { "@id": "http://reg.genome.network/allele/PA658829872", "coordinates": [ { "allele": "T", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_003060.3:c.391G>T" ], "proteinEffect": { "hgvs": "NP_003051.1:p.Glu131Ter", "hgvsWellDefined": "NP_003051.1:p.Glu131_Phe557delinsTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028339" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "G", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_427718.1:n.660G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117842" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "G", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948290.1:n.660G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141868" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "G", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948291.1:n.660G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS141869" }, { "coordinates": [ { "allele": "T", "end": 232, "referenceAllele": "G", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XM_011543590.2:c.-241G>T" ], "proteinEffect": { "hgvs": "XP_011541892.1:n.-241G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS555294" }, { "coordinates": [ { "allele": "T", "end": 58, "referenceAllele": "G", "start": 57 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XM_017009778.2:c.-34G>T" ], "proteinEffect": { "hgvs": "XP_016865267.1:n.-34G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS563996" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "G", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_001742215.1:n.660G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591988" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "G", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_001742216.1:n.660G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591989" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "G", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_427718.2:n.660G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606473" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "G", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948290.2:n.660G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614989" }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "G", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948291.2:n.660G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614990" }, { "@id": "http://reg.genome.network/allele/PA658829872", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_003060.4:c.391G>T" ], "proteinEffect": { "hgvs": "NP_003051.1:p.Glu131Ter", "hgvsWellDefined": "NP_003051.1:p.Glu131_Phe557delinsTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695718", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000245407.8:c.391G>T" }, "RefSeq": { "hgvs": "NM_003060.4:c.391G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000245407.3:p.Glu131Ter" }, "RefSeq": { "hgvs": "NP_003051.1:p.Glu131Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826924222", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_001308122.2:c.391G>T" ], "proteinEffect": { "hgvs": "NP_001295051.1:p.Glu131Ter", "hgvsWellDefined": "NP_001295051.1:p.Glu131_Phe581delinsGlnAspSerGlyAlaTyrAsnAlaMetLysAsnArgMetGlyLysLysProAlaLeuCysLeuProAlaGlnTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717230" } ], "type": "nucleotide" }