{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA359156913", "communityStandardTitle": [ "NM_002454.3(MTRR):c.524C>A (p.Ser175Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2837889[alleleid]", "alleleId": 2837889, "preferredName": "NM_002454.3(MTRR):c.524C>A (p.Ser175Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676877", "RCV": [ "RCV003461993" ], "variationId": 2676877 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.7878179C>A?assembly=hg19", "id": "chr5:g.7878179C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.7878066C>A?assembly=hg38", "id": "chr5:g.7878066C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1532268", "rs": 1532268 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-7878066-C-A?dataset=gnomad_r4", "id": "5-7878066-C-A", "variant": "5:7878066 C / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 7878066, "referenceAllele": "C", "start": 7878065 } ], "hgvs": [ "NC_000005.10:g.7878066C>A", "CM000667.2:g.7878066C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 7878179, "referenceAllele": "C", "start": 7878178 } ], "hgvs": [ "NC_000005.9:g.7878179C>A", "CM000667.1:g.7878179C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 7931179, "referenceAllele": "C", "start": 7931178 } ], "hgvs": [ "NC_000005.8:g.7931179C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 13963, "referenceAllele": "C", "start": 13962 } ], "hgvs": [ "NG_008856.1:g.13963C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001253" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000440940.7:c.524C>A" ], "proteinEffect": { "hgvs": "ENSP00000402510.2:p.Ser175Ter", "hgvsWellDefined": "ENSP00000402510.2:p.Ser175_Ser698delinsArgThrAspLeuValLysSerGluLeuLeuHisIleGluSerGlnValGluLeuLeuArgPheAspAspSerGlyArgLysAspSerGluValLeuLysGlnAsnAlaValAsnSerAsnGlnSerAsnValValIleGluAspPheGluSerSerLeuThrArgSerValProProLeuSerGlnAlaSerLeuAsnIleProGlyLeuProProGluTyrLeuGlnValHisLeuGlnGluSerLeuGlyGlnGluGluSerGlnValSerValThrSerAlaAspProValPheGlnValProIleSerLysAlaValGlnLeuThrThrAsnAspAlaIleLysThrThrLeuLeuValGluLeuAspIleSerAsnThrAspPheSerTyrGlnProGlyAspAlaPheSerValIleCysProAsnSerAspSerGluValGlnSerLeuLeuGlnArgLeuGlnLeuGluAspLysArgGluHisCysValLeuLeuLysIleLysAlaAspThrLysLysLysGlyAlaThrLeuProGlnHisIleProAlaGlyCysSerLeuGlnPheIlePheThrTrpCysLeuGluIleArgAlaIleProLysLysAlaPheLeuArgAlaLeuValAspTyrThrSerAspSerAlaGluLysArgArgLeuGlnGluLeuCysSerLysGlnGlyAlaAlaAspTyrSerArgPheValArgAspAlaCysAlaCysLeuLeuAspLeuLeuLeuAlaPheProSerCysGlnProProLeuSerLeuLeuLeuGluHisLeuProLysLeuGlnProArgProTyrSerCysAlaSerSerSerLeuPheHisProGlyLysLeuHisPheValPheAsnIleValGluPheLeuSerThrAlaThrThrGluValLeuArgLysGlyValCysThrGlyTrpLeuAlaLeuLeuValAlaSerValLeuGlnProAsnIleHisAlaSerHisGluAspSerGlyLysAlaLeuAlaProLysIleSerIleSerProArgThrThrAsnSerPheHisLeuProAspAspProSerIleProIleIleMetValGlyProGlyThrGlyIleAlaProPheIleGlyPheLeuGlnHisArgGluLysLeuGlnGluGlnHisProAspGlyAsnPheGlyAlaMetTrpLeuPhePheGlyCysArgHisLysAspArgAspTyrLeuPheArgLysGluLeuArgHisPheLeuLysHisGlyIleLeuThrHisLeuLysValSerPheSerArgAspAlaProValGlyGluGluGluAlaProAlaLysTyrValGlnAspAsnIleGlnLeuHisGlyGlnGlnValAlaArgIleLeuLeuGlnGluAsnGlyHisIleTyrValCysGlyAspAlaLysAsnMetAlaLysAspValHisAspAlaLeuValGlnIleIleSerLysGluValGlyValGluLysLeuGluAlaMetLysThrLeuAlaThrLeuLysGluGluLysArgTyrLeuGlnAspIleTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755818", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440940.7:c.524C>A" }, "RefSeq": { "hgvs": "NM_002454.3:c.524C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000402510.2:p.Ser175Ter" }, "RefSeq": { "hgvs": "NP_002445.2:p.Ser175Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000264668.6:c.605C>A" ], "proteinEffect": { "hgvs": "ENSP00000264668.2:p.Ser202Ter", "hgvsWellDefined": "ENSP00000264668.2:p.Ser202_Ser725delinsArgThrAspLeuValLysSerGluLeuLeuHisIleGluSerGlnValGluLeuLeuArgPheAspAspSerGlyArgLysAspSerGluValLeuLysGlnAsnAlaValAsnSerAsnGlnSerAsnValValIleGluAspPheGluSerSerLeuThrArgSerValProProLeuSerGlnAlaSerLeuAsnIleProGlyLeuProProGluTyrLeuGlnValHisLeuGlnGluSerLeuGlyGlnGluGluSerGlnValSerValThrSerAlaAspProValPheGlnValProIleSerLysAlaValGlnLeuThrThrAsnAspAlaIleLysThrThrLeuLeuValGluLeuAspIleSerAsnThrAspPheSerTyrGlnProGlyAspAlaPheSerValIleCysProAsnSerAspSerGluValGlnSerLeuLeuGlnArgLeuGlnLeuGluAspLysArgGluHisCysValLeuLeuLysIleLysAlaAspThrLysLysLysGlyAlaThrLeuProGlnHisIleProAlaGlyCysSerLeuGlnPheIlePheThrTrpCysLeuGluIleArgAlaIleProLysLysAlaPheLeuArgAlaLeuValAspTyrThrSerAspSerAlaGluLysArgArgLeuGlnGluLeuCysSerLysGlnGlyAlaAlaAspTyrSerArgPheValArgAspAlaCysAlaCysLeuLeuAspLeuLeuLeuAlaPheProSerCysGlnProProLeuSerLeuLeuLeuGluHisLeuProLysLeuGlnProArgProTyrSerCysAlaSerSerSerLeuPheHisProGlyLysLeuHisPheValPheAsnIleValGluPheLeuSerThrAlaThrThrGluValLeuArgLysGlyValCysThrGlyTrpLeuAlaLeuLeuValAlaSerValLeuGlnProAsnIleHisAlaSerHisGluAspSerGlyLysAlaLeuAlaProLysIleSerIleSerProArgThrThrAsnSerPheHisLeuProAspAspProSerIleProIleIleMetValGlyProGlyThrGlyIleAlaProPheIleGlyPheLeuGlnHisArgGluLysLeuGlnGluGlnHisProAspGlyAsnPheGlyAlaMetTrpLeuPhePheGlyCysArgHisLysAspArgAspTyrLeuPheArgLysGluLeuArgHisPheLeuLysHisGlyIleLeuThrHisLeuLysValSerPheSerArgAspAlaProValGlyGluGluGluAlaProAlaLysTyrValGlnAspAsnIleGlnLeuHisGlyGlnGlnValAlaArgIleLeuLeuGlnGluAsnGlyHisIleTyrValCysGlyAspAlaLysAsnMetAlaLysAspValHisAspAlaLeuValGlnIleIleSerLysGluValGlyValGluLysLeuGluAlaMetLysThrLeuAlaThrLeuLysGluGluLysArgTyrLeuGlnAspIleTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251553" }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000440940.6:c.524C>A" ], "proteinEffect": { "hgvs": "ENSP00000402510.2:p.Ser175Ter", "hgvsWellDefined": "ENSP00000402510.2:p.Ser175_Ser698delinsArgThrAspLeuValLysSerGluLeuLeuHisIleGluSerGlnValGluLeuLeuArgPheAspAspSerGlyArgLysAspSerGluValLeuLysGlnAsnAlaValAsnSerAsnGlnSerAsnValValIleGluAspPheGluSerSerLeuThrArgSerValProProLeuSerGlnAlaSerLeuAsnIleProGlyLeuProProGluTyrLeuGlnValHisLeuGlnGluSerLeuGlyGlnGluGluSerGlnValSerValThrSerAlaAspProValPheGlnValProIleSerLysAlaValGlnLeuThrThrAsnAspAlaIleLysThrThrLeuLeuValGluLeuAspIleSerAsnThrAspPheSerTyrGlnProGlyAspAlaPheSerValIleCysProAsnSerAspSerGluValGlnSerLeuLeuGlnArgLeuGlnLeuGluAspLysArgGluHisCysValLeuLeuLysIleLysAlaAspThrLysLysLysGlyAlaThrLeuProGlnHisIleProAlaGlyCysSerLeuGlnPheIlePheThrTrpCysLeuGluIleArgAlaIleProLysLysAlaPheLeuArgAlaLeuValAspTyrThrSerAspSerAlaGluLysArgArgLeuGlnGluLeuCysSerLysGlnGlyAlaAlaAspTyrSerArgPheValArgAspAlaCysAlaCysLeuLeuAspLeuLeuLeuAlaPheProSerCysGlnProProLeuSerLeuLeuLeuGluHisLeuProLysLeuGlnProArgProTyrSerCysAlaSerSerSerLeuPheHisProGlyLysLeuHisPheValPheAsnIleValGluPheLeuSerThrAlaThrThrGluValLeuArgLysGlyValCysThrGlyTrpLeuAlaLeuLeuValAlaSerValLeuGlnProAsnIleHisAlaSerHisGluAspSerGlyLysAlaLeuAlaProLysIleSerIleSerProArgThrThrAsnSerPheHisLeuProAspAspProSerIleProIleIleMetValGlyProGlyThrGlyIleAlaProPheIleGlyPheLeuGlnHisArgGluLysLeuGlnGluGlnHisProAspGlyAsnPheGlyAlaMetTrpLeuPhePheGlyCysArgHisLysAspArgAspTyrLeuPheArgLysGluLeuArgHisPheLeuLysHisGlyIleLeuThrHisLeuLysValSerPheSerArgAspAlaProValGlyGluGluGluAlaProAlaLysTyrValGlnAspAsnIleGlnLeuHisGlyGlnGlnValAlaArgIleLeuLeuGlnGluAsnGlyHisIleTyrValCysGlyAspAlaLysAsnMetAlaLysAspValHisAspAlaLeuValGlnIleIleSerLysGluValGlyValGluLysLeuGluAlaMetLysThrLeuAlaThrLeuLysGluGluLysArgTyrLeuGlnAspIleTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296138" }, { "coordinates": [ { "allele": "A", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000508890.1:n.337C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS339798" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000510279.5:c.*193C>A" ], "proteinEffect": { "hgvs": "ENSP00000427200.1:n.*193C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS340831" }, { "coordinates": [ { "allele": "A", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000510525.5:c.549C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS341007" }, { "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000511461.5:c.437C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS341723" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000513439.5:c.*231C>A" ], "proteinEffect": { "hgvs": "ENSP00000426710.1:n.*231C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS343181" }, { "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "C", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000514220.5:c.309C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS343763" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000514369.5:c.*188C>A" ], "proteinEffect": { "hgvs": "ENSP00000426132.1:n.*188C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS343870" }, { "@id": "http://reg.genome.network/allele/PA2829385647", "coordinates": [ { "allele": "A", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_002454.2:c.524C>A" ], "proteinEffect": { "hgvs": "NP_002445.2:p.Ser175Ter", "hgvsWellDefined": "NP_002445.2:p.Ser175_Ser698delinsArgThrAspLeuValLysSerGluLeuLeuHisIleGluSerGlnValGluLeuLeuArgPheAspAspSerGlyArgLysAspSerGluValLeuLysGlnAsnAlaValAsnSerAsnGlnSerAsnValValIleGluAspPheGluSerSerLeuThrArgSerValProProLeuSerGlnAlaSerLeuAsnIleProGlyLeuProProGluTyrLeuGlnValHisLeuGlnGluSerLeuGlyGlnGluGluSerGlnValSerValThrSerAlaAspProValPheGlnValProIleSerLysAlaValGlnLeuThrThrAsnAspAlaIleLysThrThrLeuLeuValGluLeuAspIleSerAsnThrAspPheSerTyrGlnProGlyAspAlaPheSerValIleCysProAsnSerAspSerGluValGlnSerLeuLeuGlnArgLeuGlnLeuGluAspLysArgGluHisCysValLeuLeuLysIleLysAlaAspThrLysLysLysGlyAlaThrLeuProGlnHisIleProAlaGlyCysSerLeuGlnPheIlePheThrTrpCysLeuGluIleArgAlaIleProLysLysAlaPheLeuArgAlaLeuValAspTyrThrSerAspSerAlaGluLysArgArgLeuGlnGluLeuCysSerLysGlnGlyAlaAlaAspTyrSerArgPheValArgAspAlaCysAlaCysLeuLeuAspLeuLeuLeuAlaPheProSerCysGlnProProLeuSerLeuLeuLeuGluHisLeuProLysLeuGlnProArgProTyrSerCysAlaSerSerSerLeuPheHisProGlyLysLeuHisPheValPheAsnIleValGluPheLeuSerThrAlaThrThrGluValLeuArgLysGlyValCysThrGlyTrpLeuAlaLeuLeuValAlaSerValLeuGlnProAsnIleHisAlaSerHisGluAspSerGlyLysAlaLeuAlaProLysIleSerIleSerProArgThrThrAsnSerPheHisLeuProAspAspProSerIleProIleIleMetValGlyProGlyThrGlyIleAlaProPheIleGlyPheLeuGlnHisArgGluLysLeuGlnGluGlnHisProAspGlyAsnPheGlyAlaMetTrpLeuPhePheGlyCysArgHisLysAspArgAspTyrLeuPheArgLysGluLeuArgHisPheLeuLysHisGlyIleLeuThrHisLeuLysValSerPheSerArgAspAlaProValGlyGluGluGluAlaProAlaLysTyrValGlnAspAsnIleGlnLeuHisGlyGlnGlnValAlaArgIleLeuLeuGlnGluAsnGlyHisIleTyrValCysGlyAspAlaLysAsnMetAlaLysAspValHisAspAlaLeuValGlnIleIleSerLysGluValGlyValGluLysLeuGluAlaMetLysThrLeuAlaThrLeuLysGluGluLysArgTyrLeuGlnAspIleTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027758" }, { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_024010.2:c.605C>A" ], "proteinEffect": { "hgvs": "NP_076915.2:p.Ser202Ter", "hgvsWellDefined": "NP_076915.2:p.Ser202_Ser725delinsArgThrAspLeuValLysSerGluLeuLeuHisIleGluSerGlnValGluLeuLeuArgPheAspAspSerGlyArgLysAspSerGluValLeuLysGlnAsnAlaValAsnSerAsnGlnSerAsnValValIleGluAspPheGluSerSerLeuThrArgSerValProProLeuSerGlnAlaSerLeuAsnIleProGlyLeuProProGluTyrLeuGlnValHisLeuGlnGluSerLeuGlyGlnGluGluSerGlnValSerValThrSerAlaAspProValPheGlnValProIleSerLysAlaValGlnLeuThrThrAsnAspAlaIleLysThrThrLeuLeuValGluLeuAspIleSerAsnThrAspPheSerTyrGlnProGlyAspAlaPheSerValIleCysProAsnSerAspSerGluValGlnSerLeuLeuGlnArgLeuGlnLeuGluAspLysArgGluHisCysValLeuLeuLysIleLysAlaAspThrLysLysLysGlyAlaThrLeuProGlnHisIleProAlaGlyCysSerLeuGlnPheIlePheThrTrpCysLeuGluIleArgAlaIleProLysLysAlaPheLeuArgAlaLeuValAspTyrThrSerAspSerAlaGluLysArgArgLeuGlnGluLeuCysSerLysGlnGlyAlaAlaAspTyrSerArgPheValArgAspAlaCysAlaCysLeuLeuAspLeuLeuLeuAlaPheProSerCysGlnProProLeuSerLeuLeuLeuGluHisLeuProLysLeuGlnProArgProTyrSerCysAlaSerSerSerLeuPheHisProGlyLysLeuHisPheValPheAsnIleValGluPheLeuSerThrAlaThrThrGluValLeuArgLysGlyValCysThrGlyTrpLeuAlaLeuLeuValAlaSerValLeuGlnProAsnIleHisAlaSerHisGluAspSerGlyLysAlaLeuAlaProLysIleSerIleSerProArgThrThrAsnSerPheHisLeuProAspAspProSerIleProIleIleMetValGlyProGlyThrGlyIleAlaProPheIleGlyPheLeuGlnHisArgGluLysLeuGlnGluGlnHisProAspGlyAsnPheGlyAlaMetTrpLeuPhePheGlyCysArgHisLysAspArgAspTyrLeuPheArgLysGluLeuArgHisPheLeuLysHisGlyIleLeuThrHisLeuLysValSerPheSerArgAspAlaProValGlyGluGluGluAlaProAlaLysTyrValGlnAspAsnIleGlnLeuHisGlyGlnGlnValAlaArgIleLeuLeuGlnGluAsnGlyHisIleTyrValCysGlyAspAlaLysAsnMetAlaLysAspValHisAspAlaLeuValGlnIleIleSerLysGluValGlyValGluLysLeuGluAlaMetLysThrLeuAlaThrLeuLysGluGluLysArgTyrLeuGlnAspIleTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037605" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XM_006714474.2:c.605C>A" ], "proteinEffect": { "hgvs": "XP_006714537.1:p.Ser202Ter", "hgvsWellDefined": "XP_006714537.1:p.Ser202_Cys480delinsArgThrAspLeuValLysSerGluLeuLeuHisIleGluSerGlnValGluLeuLeuArgPheAspAspSerGlyArgLysAspSerGluValLeuLysGlnAsnAlaValAsnSerAsnGlnSerAsnValValIleGluAspPheGluSerSerLeuThrArgSerValProProLeuSerGlnAlaSerLeuAsnIleProGlyLeuProProGluTyrLeuGlnValHisLeuGlnGluSerLeuGlyGlnGluGluSerGlnValSerValThrSerAlaAspProValPheGlnValProIleSerLysAlaValGlnLeuThrThrAsnAspAlaIleLysThrThrLeuLeuValGluLeuAspIleSerAsnThrAspPheSerTyrGlnProGlyAspAlaPheSerValIleCysProAsnSerAspSerGluValGlnSerLeuLeuGlnArgLeuGlnLeuGluAspLysArgGluHisCysValLeuLeuLysIleLysAlaAspThrLysLysLysGlyAlaThrLeuProGlnHisIleProAlaGlyCysSerLeuGlnPheIlePheThrTrpCysLeuGluIleArgAlaIleProLysLysAlaPheLeuArgAlaLeuValAspTyrThrSerAspSerAlaGluLysArgArgLeuGlnGluLeuCysSerLysGlnGlyAlaAlaAspTyrSerArgPheValArgAspAlaCysAlaCysLeuLeuAspLeuLeuLeuAlaPheProSerCysGlnProProLeuSerLeuLeuLeuValPhePheProLeuArgThrSerProLysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070677" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XM_011514043.1:c.605C>A" ], "proteinEffect": { "hgvs": "XP_011512345.1:p.Ser202Ter", "hgvsWellDefined": "XP_011512345.1:p.Ser202_Leu724delinsArgThrAspLeuValLysSerGluLeuLeuHisIleGluSerGlnValGluLeuLeuArgPheAspAspSerGlyArgLysAspSerGluValLeuLysGlnAsnAlaValAsnSerAsnGlnSerAsnValValIleGluAspPheGluSerSerLeuThrArgSerValProProLeuSerGlnAlaSerLeuAsnIleProGlyLeuProProGluTyrLeuGlnValHisLeuGlnGluSerLeuGlyGlnGluGluSerGlnValSerValThrSerAlaAspProValPheGlnValProIleSerLysAlaValGlnLeuThrThrAsnAspAlaIleLysThrThrLeuLeuValGluLeuAspIleSerAsnThrAspPheSerTyrGlnProGlyAspAlaPheSerValIleCysProAsnSerAspSerGluValGlnSerLeuLeuGlnArgLeuGlnLeuGluAspLysArgGluHisCysValLeuLeuLysIleLysAlaAspThrLysLysLysGlyAlaThrLeuProGlnHisIleProAlaGlyCysSerLeuGlnPheIlePheThrTrpCysLeuGluIleArgAlaIleProLysLysAlaPheLeuArgAlaLeuValAspTyrThrSerAspSerAlaGluLysArgArgLeuGlnGluLeuCysSerLysGlnGlyAlaAlaAspTyrSerArgPheValArgAspAlaCysAlaCysLeuLeuAspLeuLeuLeuAlaPheProSerCysGlnProProLeuSerLeuLeuLeuGluHisLeuProLysLeuGlnProArgProTyrSerCysAlaSerSerSerLeuPheHisProGlyLysLeuHisPheValPheAsnIleValGluPheLeuSerThrAlaThrThrGluValLeuArgLysGlyValCysThrGlyTrpLeuAlaLeuLeuValAlaSerValLeuGlnProAsnIleHisAlaSerHisGluAspSerGlyLysAlaLeuAlaProLysIleSerIleSerProArgThrThrAsnSerPheHisLeuProAspAspProSerIleProIleIleMetValGlyProGlyThrGlyIleAlaProPheIleGlyPheLeuGlnHisArgGluLysLeuGlnGluGlnHisProAspGlyAsnPheGlyAlaMetTrpLeuPhePheGlyCysArgHisLysAspArgAspTyrLeuPheArgLysGluLeuArgHisPheLeuLysHisGlyIleLeuThrHisLeuLysValSerPheSerArgAspAlaProValGlyGluGluGluAlaProAlaLysTyrValGlnAspAsnIleGlnLeuHisGlyGlnGlnValAlaArgIleLeuLeuGlnGluAsnGlyHisIleTyrValCysGlyArgGlnAsnThrGlyIleValThrGlnAsnIleTrpIleLysIleIleGluThrSerPheMetLysGlnSerAsnValPheCysLeuValPheIleThrHisSerAspHisPheSerSerIleLeuPheSerLeuLeuTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS690902" }, { "@id": "http://reg.genome.network/allele/PA2828148576", "coordinates": [ { "allele": "A", "end": 1120, "referenceAllele": "C", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_001364441.2:c.524C>A" ], "proteinEffect": { "hgvs": "NP_001351370.1:p.Ser175Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS690903" }, { "@id": "http://reg.genome.network/allele/PA2828149090", "coordinates": [ { "allele": "A", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_001364442.2:c.524C>A" ], "proteinEffect": { "hgvs": "NP_001351371.1:p.Ser175Ter", "hgvsWellDefined": 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"NP_002445.2:p.Ser175_Ser698delinsArgThrAspLeuValLysSerGluLeuLeuHisIleGluSerGlnValGluLeuLeuArgPheAspAspSerGlyArgLysAspSerGluValLeuLysGlnAsnAlaValAsnSerAsnGlnSerAsnValValIleGluAspPheGluSerSerLeuThrArgSerValProProLeuSerGlnAlaSerLeuAsnIleProGlyLeuProProGluTyrLeuGlnValHisLeuGlnGluSerLeuGlyGlnGluGluSerGlnValSerValThrSerAlaAspProValPheGlnValProIleSerLysAlaValGlnLeuThrThrAsnAspAlaIleLysThrThrLeuLeuValGluLeuAspIleSerAsnThrAspPheSerTyrGlnProGlyAspAlaPheSerValIleCysProAsnSerAspSerGluValGlnSerLeuLeuGlnArgLeuGlnLeuGluAspLysArgGluHisCysValLeuLeuLysIleLysAlaAspThrLysLysLysGlyAlaThrLeuProGlnHisIleProAlaGlyCysSerLeuGlnPheIlePheThrTrpCysLeuGluIleArgAlaIleProLysLysAlaPheLeuArgAlaLeuValAspTyrThrSerAspSerAlaGluLysArgArgLeuGlnGluLeuCysSerLysGlnGlyAlaAlaAspTyrSerArgPheValArgAspAlaCysAlaCysLeuLeuAspLeuLeuLeuAlaPheProSerCysGlnProProLeuSerLeuLeuLeuGluHisLeuProLysLeuGlnProArgProTyrSerCysAlaSerSerSerLeuPheHisProGlyLysLeuHisPheValPheAsnIleValGluPheLeuSerThrAlaThrThrGluValLeuArgLysGlyValCysThrGlyTrpLeuAlaLeuLeuValAlaSerValLeuGlnProAsnIleHisAlaSerHisGluAspSerGlyLysAlaLeuAlaProLysIleSerIleSerProArgThrThrAsnSerPheHisLeuProAspAspProSerIleProIleIleMetValGlyProGlyThrGlyIleAlaProPheIleGlyPheLeuGlnHisArgGluLysLeuGlnGluGlnHisProAspGlyAsnPheGlyAlaMetTrpLeuPhePheGlyCysArgHisLysAspArgAspTyrLeuPheArgLysGluLeuArgHisPheLeuLysHisGlyIleLeuThrHisLeuLysValSerPheSerArgAspAlaProValGlyGluGluGluAlaProAlaLysTyrValGlnAspAsnIleGlnLeuHisGlyGlnGlnValAlaArgIleLeuLeuGlnGluAsnGlyHisIleTyrValCysGlyAspAlaLysAsnMetAlaLysAspValHisAspAlaLeuValGlnIleIleSerLysGluValGlyValGluLysLeuGluAlaMetLysThrLeuAlaThrLeuLysGluGluLysArgTyrLeuGlnAspIleTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695548", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440940.7:c.524C>A" }, "RefSeq": { "hgvs": "NM_002454.3:c.524C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000402510.2:p.Ser175Ter" }, "RefSeq": { "hgvs": "NP_002445.2:p.Ser175Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741984068", "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_024010.4:c.524C>A" ], "proteinEffect": { "hgvs": "NP_076915.3:p.Ser175Ter", "hgvsWellDefined": "NP_076915.3:p.Ser175_Ser698delinsArgThrAspLeuValLysSerGluLeuLeuHisIleGluSerGlnValGluLeuLeuArgPheAspAspSerGlyArgLysAspSerGluValLeuLysGlnAsnAlaValAsnSerAsnGlnSerAsnValValIleGluAspPheGluSerSerLeuThrArgSerValProProLeuSerGlnAlaSerLeuAsnIleProGlyLeuProProGluTyrLeuGlnValHisLeuGlnGluSerLeuGlyGlnGluGluSerGlnValSerValThrSerAlaAspProValPheGlnValProIleSerLysAlaValGlnLeuThrThrAsnAspAlaIleLysThrThrLeuLeuValGluLeuAspIleSerAsnThrAspPheSerTyrGlnProGlyAspAlaPheSerValIleCysProAsnSerAspSerGluValGlnSerLeuLeuGlnArgLeuGlnLeuGluAspLysArgGluHisCysValLeuLeuLysIleLysAlaAspThrLysLysLysGlyAlaThrLeuProGlnHisIleProAlaGlyCysSerLeuGlnPheIlePheThrTrpCysLeuGluIleArgAlaIleProLysLysAlaPheLeuArgAlaLeuValAspTyrThrSerAspSerAlaGluLysArgArgLeuGlnGluLeuCysSerLysGlnGlyAlaAlaAspTyrSerArgPheValArgAspAlaCysAlaCysLeuLeuAspLeuLeuLeuAlaPheProSerCysGlnProProLeuSerLeuLeuLeuGluHisLeuProLysLeuGlnProArgProTyrSerCysAlaSerSerSerLeuPheHisProGlyLysLeuHisPheValPheAsnIleValGluPheLeuSerThrAlaThrThrGluValLeuArgLysGlyValCysThrGlyTrpLeuAlaLeuLeuValAlaSerValLeuGlnProAsnIleHisAlaSerHisGluAspSerGlyLysAlaLeuAlaProLysIleSerIleSerProArgThrThrAsnSerPheHisLeuProAspAspProSerIleProIleIleMetValGlyProGlyThrGlyIleAlaProPheIleGlyPheLeuGlnHisArgGluLysLeuGlnGluGlnHisProAspGlyAsnPheGlyAlaMetTrpLeuPhePheGlyCysArgHisLysAspArgAspTyrLeuPheArgLysGluLeuArgHisPheLeuLysHisGlyIleLeuThrHisLeuLysValSerPheSerArgAspAlaProValGlyGluGluGluAlaProAlaLysTyrValGlnAspAsnIleGlnLeuHisGlyGlnGlnValAlaArgIleLeuLeuGlnGluAsnGlyHisIleTyrValCysGlyAspAlaLysAsnMetAlaLysAspValHisAspAlaLeuValGlnIleIleSerLysGluValGlyValGluLysLeuGluAlaMetLysThrLeuAlaThrLeuLysGluGluLysArgTyrLeuGlnAspIleTrpSerTer" 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"referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157168.2:n.577C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704998" }, { "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157169.2:n.437C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704999" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157170.2:n.463C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705000" }, { "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157171.2:n.437C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705001" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157172.2:n.463C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705002" }, { "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157173.2:n.591C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705003" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157174.2:n.463C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705004" }, { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157175.2:n.617C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705005" }, { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157176.2:n.617C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705006" }, { "coordinates": [ { "allele": "A", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157177.2:n.612C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705007" }, { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157178.2:n.617C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705008" } ], "type": "nucleotide" }