{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA257198", "communityStandardTitle": [ "NM_000254.3(MTR):c.1753C>T (p.Arg585Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29325[alleleid]", "alleleId": 29325, "preferredName": "NM_000254.3(MTR):c.1753C>T (p.Arg585Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14286", "RCV": [ "RCV000015356" ], "variationId": 14286 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-237015878-C-T", "id": "1-237015878-C-T", "variant": "1:237015878 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.237015878C>T?assembly=hg19", "id": "chr1:g.237015878C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.236852578C>T?assembly=hg38", "id": "chr1:g.236852578C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121913580", "rs": 121913580 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-237015878-C-T?dataset=gnomad_r2_1", "id": "1-237015878-C-T", "variant": "1:237015878 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-236852578-C-T?dataset=gnomad_r3", "id": "1-236852578-C-T", "variant": "1:236852578 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-236852578-C-T?dataset=gnomad_r4", "id": "1-236852578-C-T", "variant": "1:236852578 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 236852578, "referenceAllele": "C", "start": 236852577 } ], "hgvs": [ "NC_000001.11:g.236852578C>T", "CM000663.2:g.236852578C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 237015878, "referenceAllele": "C", "start": 237015877 } ], "hgvs": [ "NC_000001.10:g.237015878C>T", "CM000663.1:g.237015878C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 235082501, "referenceAllele": "C", "start": 235082500 } ], "hgvs": [ "NC_000001.9:g.235082501C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 62298, "referenceAllele": "C", "start": 62297 } ], "hgvs": [ "NG_008959.1:g.62298C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001330" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2165, "referenceAllele": "C", "start": 2164 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000366577.10:c.1753C>T" ], "proteinEffect": { "hgvs": "ENSP00000355536.5:p.Arg585Ter", "hgvsWellDefined": "ENSP00000355536.5:p.Arg585_Asp1265delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749812", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366577.10:c.1753C>T" }, "RefSeq": { "hgvs": "NM_000254.3:c.1753C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355536.5:p.Arg585Ter" }, "RefSeq": { "hgvs": "NP_000245.2:p.Arg585Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1775, "referenceAllele": "C", "start": 1774 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000535889.6:c.1753C>T" ], "proteinEffect": { "hgvs": "ENSP00000441845.1:p.Arg585Ter", "hgvsWellDefined": "ENSP00000441845.1:p.Arg585_Asp1214delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759463" }, { "coordinates": [ { "allele": "T", "end": 1899, "referenceAllele": "C", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000650888.1:c.*795C>T" ], "proteinEffect": { "hgvs": "ENSP00000498393.1:n.*795C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS771368" }, { "coordinates": [ { "allele": "T", "end": 1662, "referenceAllele": "C", "start": 1661 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000651455.1:c.*497C>T" ], "proteinEffect": { "hgvs": "ENSP00000498963.1:n.*497C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS771677" }, { "coordinates": [ { "allele": "T", "end": 1950, "referenceAllele": "C", "start": 1949 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000674797.2:c.1405C>T" ], "proteinEffect": { "hgvs": "ENSP00000502299.2:p.Arg469Ter", "hgvsWellDefined": "ENSP00000502299.2:p.Arg469_Asp1149delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774710" }, { "coordinates": [ { "allele": "T", "end": 2067, "referenceAllele": "C", "start": 2066 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000679569.1:n.2067C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779197" }, { "coordinates": [ { "allele": "T", "end": 1753, "referenceAllele": "C", "start": 1752 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000679842.1:c.1753C>T" ], "proteinEffect": { "hgvs": "ENSP00000506109.1:p.Arg585Ter", "hgvsWellDefined": "ENSP00000506109.1:p.Arg585_Asp1202delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779464" }, { "coordinates": [ { "allele": "T", "end": 2197, "referenceAllele": "C", "start": 2196 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000680454.1:n.2197C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780071" }, { "coordinates": [ { "allele": "T", "end": 1573, "referenceAllele": "C", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000681102.1:c.1573C>T" ], "proteinEffect": { "hgvs": "ENSP00000505600.1:p.Arg525Ter", "hgvsWellDefined": "ENSP00000505600.1:p.Arg525_Asp1205delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780714" }, { "coordinates": [ { "allele": "T", "end": 1515, "endIntronDirection": "-", "endIntronOffset": 7254, "referenceAllele": "C", "start": 1515, "startIntronDirection": "-", "startIntronOffset": 7255 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000681177.1:c.1516-7255C>T" ], "proteinEffect": { "hgvs": "ENSP00000506327.1:n.1516-7255C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780789" }, { "coordinates": [ { "allele": "T", "end": 2147, "endIntronDirection": "-", "endIntronOffset": 7254, "referenceAllele": "C", "start": 2147, "startIntronDirection": "-", "startIntronOffset": 7255 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000681937.1:n.2148-7255C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781536" }, { "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000366576.3:c.415C>T" ], "proteinEffect": { "hgvs": "ENSP00000355535.3:p.Arg139Ter", "hgvsWellDefined": "ENSP00000355535.3:p.Arg139_Asp819delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265902" }, { "coordinates": [ { "allele": "T", "end": 2147, "referenceAllele": "C", "start": 2146 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000366577.9:c.1753C>T" ], "proteinEffect": { "hgvs": "ENSP00000355536.5:p.Arg585Ter", "hgvsWellDefined": "ENSP00000355536.5:p.Arg585_Asp1265delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265903" }, { "coordinates": [ { "allele": "T", "end": 1772, "referenceAllele": "C", "start": 1771 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000463959.1:n.1772C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS307883" }, { "coordinates": [ { "allele": "T", "end": 2176, "referenceAllele": "C", "start": 2175 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000535889.5:c.1753C>T" ], "proteinEffect": { "hgvs": "ENSP00000441845.1:p.Arg585Ter", "hgvsWellDefined": "ENSP00000441845.1:p.Arg585_Asp1214delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359978" }, { "@id": "http://reg.genome.network/allele/PA257199", "coordinates": [ { "allele": "T", "end": 2176, "referenceAllele": "C", "start": 2175 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "NM_000254.2:c.1753C>T" ], "proteinEffect": { "hgvs": "NP_000245.2:p.Arg585Ter", "hgvsWellDefined": "NP_000245.2:p.Arg585_Asp1265delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006316" }, { "@id": "http://reg.genome.network/allele/PA916018358", "coordinates": [ { "allele": "T", "end": 2176, "referenceAllele": "C", "start": 2175 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "NM_001291939.1:c.1753C>T" ], "proteinEffect": { "hgvs": "NP_001278868.1:p.Arg585Ter", "hgvsWellDefined": "NP_001278868.1:p.Arg585_Asp1214delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024380" }, { "@id": "http://reg.genome.network/allele/PA2826814457", "coordinates": [ { "allele": "T", "end": 2063, "referenceAllele": "C", "start": 2062 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "NM_001291940.1:c.532C>T" ], "proteinEffect": { "hgvs": "NP_001278869.1:p.Arg178Ter", "hgvsWellDefined": "NP_001278869.1:p.Arg178_Asp858delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024381" }, { "coordinates": [ { "allele": "T", "end": 3150, "referenceAllele": "C", "start": 3149 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_005273141.3:c.1750C>T" ], "proteinEffect": { "hgvs": "XP_005273198.1:p.Arg584Ter", "hgvsWellDefined": "XP_005273198.1:p.Arg584_Asp1264delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067461" }, { "coordinates": [ { "allele": "T", "end": 3153, "referenceAllele": "C", "start": 3152 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_006711769.2:c.1753C>T" ], "proteinEffect": { "hgvs": "XP_006711832.1:p.Arg585Ter", "hgvsWellDefined": "XP_006711832.1:p.Arg585_Leu1139delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluSerProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069291" }, { "coordinates": [ { "allele": "T", "end": 1124, "referenceAllele": "C", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_006711770.1:c.817C>T" ], "proteinEffect": { "hgvs": "XP_006711833.1:p.Arg273Ter", "hgvsWellDefined": "XP_006711833.1:p.Arg273_Asp953delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069292" }, { "coordinates": [ { "allele": "T", "end": 3153, "referenceAllele": "C", "start": 3152 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_011544193.1:c.1753C>T" ], "proteinEffect": { "hgvs": "XP_011542495.1:p.Arg585Ter", "hgvsWellDefined": "XP_011542495.1:p.Arg585_Asp1202delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111105" }, { "coordinates": [ { "allele": "T", "end": 2938, "referenceAllele": "C", "start": 2937 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_011544194.1:c.1921C>T" ], "proteinEffect": { "hgvs": "XP_011542496.1:p.Arg641Ter", "hgvsWellDefined": "XP_011542496.1:p.Arg641_Asp1321delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111106" }, { "coordinates": [ { "allele": "T", "end": 2145, "referenceAllele": "C", "start": 2144 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_005273141.5:c.1750C>T" ], "proteinEffect": { "hgvs": "XP_005273198.1:p.Arg584Ter", "hgvsWellDefined": "XP_005273198.1:p.Arg584_Asp1264delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537391" }, { "coordinates": [ { "allele": "T", "end": 1124, "referenceAllele": "C", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_006711770.3:c.817C>T" ], "proteinEffect": { "hgvs": "XP_006711833.1:p.Arg273Ter", "hgvsWellDefined": "XP_006711833.1:p.Arg273_Asp953delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538076" }, { "coordinates": [ { "allele": "T", "end": 2938, "referenceAllele": "C", "start": 2937 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_011544194.3:c.1921C>T" ], "proteinEffect": { "hgvs": "XP_011542496.1:p.Arg641Ter", "hgvsWellDefined": "XP_011542496.1:p.Arg641_Asp1321delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555551" }, { "coordinates": [ { "allele": "T", "end": 2938, "referenceAllele": "C", "start": 2937 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_017001329.2:c.1921C>T" ], "proteinEffect": { "hgvs": "XP_016856818.1:p.Arg641Ter", "hgvsWellDefined": "XP_016856818.1:p.Arg641_Asp1270delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557531" }, { "coordinates": [ { "allele": "T", "end": 2938, "referenceAllele": "C", "start": 2937 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_017001330.2:c.1921C>T" ], "proteinEffect": { "hgvs": "XP_016856819.1:p.Arg641Ter", "hgvsWellDefined": "XP_016856819.1:p.Arg641_Asp1258delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557532" }, { "@id": "http://reg.genome.network/allele/PA2826814457", "coordinates": [ { "allele": "T", "end": 2052, "referenceAllele": "C", "start": 2051 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "NM_001291940.2:c.532C>T" ], "proteinEffect": { "hgvs": "NP_001278869.1:p.Arg178Ter", "hgvsWellDefined": "NP_001278869.1:p.Arg178_Asp858delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682908" }, { "@id": "http://reg.genome.network/allele/PA257199", "coordinates": [ { "allele": "T", "end": 2165, "referenceAllele": "C", "start": 2164 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "NM_000254.3:c.1753C>T" ], "proteinEffect": { "hgvs": "NP_000245.2:p.Arg585Ter", "hgvsWellDefined": "NP_000245.2:p.Arg585_Asp1265delinsGlyMetGluAlaIleArgGluAlaMetHisGlyValPheLeuTyrHisAlaIleLysSerGlyMetAspMetGlyIleValAsnAlaGlyAsnLeuProValTyrAspAspIleHisLysGluLeuLeuGlnLeuCysGluAspLeuIleTrpAsnLysAspProGluAlaThrGluLysLeuLeuArgTyrAlaGlnThrGlnGlyThrGlyGlyLysLysValIleGlnThrAspGluTrpArgAsnGlyProValGluGluArgLeuGluTyrAlaLeuValLysGlyIleGluLysHisIleIleGluAspThrGluGluAlaArgLeuAsnGlnLysLysTyrProArgProLeuAsnIleIleGluGlyProLeuMetAsnGlyMetLysIleValGlyAspLeuPheGlyAlaGlyLysMetPheLeuProGlnValIleLysSerAlaArgValMetLysLysAlaValGlyHisLeuIleProPheMetGluLysGluArgGluGluThrArgValLeuAsnGlyThrValGluGluGluAspProTyrGlnGlyThrIleValLeuAlaThrValLysGlyAspValHisAspIleGlyLysAsnIleValGlyValValLeuGlyCysAsnAsnPheArgValIleAspLeuGlyValMetThrProCysAspLysIleLeuLysAlaAlaLeuAspHisLysAlaAspIleIleGlyLeuSerGlyLeuIleThrProSerLeuAspGluMetIlePheValAlaLysGluMetGluArgLeuAlaIleArgIleProLeuLeuIleGlyGlyAlaThrThrSerLysThrHisThrAlaValLysIleAlaProArgTyrSerAlaProValIleHisValLeuAspAlaSerLysSerValValValCysSerGlnLeuLeuAspGluAsnLeuLysAspGluTyrPheGluGluIleMetGluGluTyrGluAspIleArgGlnAspHisTyrGluSerLeuLysGluArgArgTyrLeuProLeuSerGlnAlaArgLysSerGlyPheGlnMetAspTrpLeuSerGluProHisProValLysProThrPheIleGlyThrGlnValPheGluAspTyrAspLeuGlnLysLeuValAspTyrIleAspTrpLysProPhePheAspValTrpGlnLeuArgGlyLysTyrProAsnArgGlyPheProLysIlePheAsnAspLysThrValGlyGlyGluAlaArgLysValTyrAspAspAlaHisAsnMetLeuAsnThrLeuIleSerGlnLysLysLeuArgAlaArgGlyValValGlyPheTrpProAlaGlnSerIleGlnAspAspIleHisLeuTyrAlaGluAlaAlaValProGlnAlaAlaGluProIleAlaThrPheTyrGlyLeuArgGlnGlnAlaGluLysAspSerAlaSerThrGluProTyrTyrCysLeuSerAspPheIleAlaProLeuHisSerGlyIleArgAspTyrLeuGlyLeuPheAlaValAlaCysPheGlyValGluGluLeuSerLysAlaTyrGluAspAspGlyAspAspTyrSerSerIleMetValLysAlaLeuGlyAspArgLeuAlaGluAlaPheAlaGluGluLeuHisGluArgValArgArgGluLeuTrpAlaTyrCysGlySerGluGlnLeuAspValAlaAspLeuArgArgLeuArgTyrLysGlyIleArgProAlaProGlyTyrProSerGlnProAspHisThrGluLysLeuThrMetTrpArgLeuAlaAspIleGluGlnSerThrGlyIleArgLeuThrGluSerLeuAlaMetAlaProAlaSerAlaValSerGlyLeuTyrPheSerAsnLeuLysSerLysTyrPheAlaValGlyLysIleSerLysAspGlnValGluAspTyrAlaLeuArgLysAsnIleSerValAlaGluValGluLysTrpLeuGlyProIleLeuGlyTyrAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710816", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366577.10:c.1753C>T" }, "RefSeq": { "hgvs": "NM_000254.3:c.1753C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355536.5:p.Arg585Ter" }, "RefSeq": { "hgvs": "NP_000245.2:p.Arg585Ter" } } } } ], "type": "nucleotide" }