{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA355322442", "communityStandardTitle": [ "NM_020166.5(MCCC1):c.123C>A (p.Tyr41Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1059695[alleleid]", "alleleId": 1059695, "preferredName": "NM_020166.5(MCCC1):c.123C>A (p.Tyr41Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1070232", "RCV": [ "RCV001382304" ], "variationId": 1070232 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.182812360G>T?assembly=hg19", "id": "chr3:g.182812360G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.183094572G>T?assembly=hg38", "id": "chr3:g.183094572G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2108569910", "rs": 2108569910 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 183094572, "referenceAllele": "G", "start": 183094571 } ], "hgvs": [ "NC_000003.12:g.183094572G>T", "CM000665.2:g.183094572G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 182812360, "referenceAllele": "G", "start": 182812359 } ], "hgvs": [ "NC_000003.11:g.182812360G>T", "CM000665.1:g.182812360G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 184295054, "referenceAllele": "G", "start": 184295053 } ], "hgvs": [ "NC_000003.10:g.184295054G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 10006, "referenceAllele": "C", "start": 10005 } ], "hgvs": [ "NG_008100.1:g.10006C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000845" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "C", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000265594.9:c.123C>A" ], "proteinEffect": { "hgvs": "ENSP00000265594.4:p.Tyr41Ter", "hgvsWellDefined": "ENSP00000265594.4:p.Tyr41_Glu725delinsThrThrAlaThrGlyArgAsnIleThrLysValLeuIleAlaAsnArgGlyGluIleAlaCysArgValMetArgThrAlaLysLysLeuGlyValGlnThrValAlaValTyrSerGluAlaAspArgAsnSerMetHisValAspMetAlaAspGluAlaTyrSerIleGlyProAlaProSerGlnGlnSerTyrLeuSerMetGluLysIleIleGlnValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742855", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265594.9:c.123C>A" }, "RefSeq": { "hgvs": "NM_020166.5:c.123C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265594.4:p.Tyr41Ter" }, "RefSeq": { "hgvs": "NP_064551.3:p.Tyr41Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "C", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000265594.8:c.123C>A" ], "proteinEffect": { "hgvs": "ENSP00000265594.4:p.Tyr41Ter", "hgvsWellDefined": "ENSP00000265594.4:p.Tyr41_Glu725delinsThrThrAlaThrGlyArgAsnIleThrLysValLeuIleAlaAsnArgGlyGluIleAlaCysArgValMetArgThrAlaLysLysLeuGlyValGlnThrValAlaValTyrSerGluAlaAspArgAsnSerMetHisValAspMetAlaAspGluAlaTyrSerIleGlyProAlaProSerGlnGlnSerTyrLeuSerMetGluLysIleIleGlnValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251776" }, { "coordinates": [ { "allele": "A", "end": 213, "referenceAllele": "C", "start": 212 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000466650.5:c.123C>A" ], "proteinEffect": { "hgvs": "ENSP00000418979.1:p.Tyr41Ter", "hgvsWellDefined": "ENSP00000418979.1:p.Tyr41_Arg47delinsThrThrAlaThrGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS309968" }, { "coordinates": [ { "allele": "A", "end": 36, "referenceAllele": "C", "start": 35 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000473955.1:n.36C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS315575" }, { "coordinates": [ { "allele": "A", "end": 233, "referenceAllele": "C", "start": 232 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000476176.5:c.123C>A" ], "proteinEffect": { "hgvs": "ENSP00000420433.1:p.Tyr41Ter", "hgvsWellDefined": "ENSP00000420433.1:p.Tyr41Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS317298" }, { "coordinates": [ { "allele": "A", "end": 178, "referenceAllele": "C", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000486226.1:c.123C>A" ], "proteinEffect": { "hgvs": "ENSP00000420223.1:p.Tyr41Ter", "hgvsWellDefined": "ENSP00000420223.1:p.Tyr41_Thr112delinsThrThrAlaThrGlyArgAsnIleThrLysValLeuIleAlaAsnArgGlyGluIleAlaCysArgValMetArgThrAlaLysLysLeuGlyValGlnThrValAlaValTyrSerGluAlaAspArgAsnSerMetHisValAspMetGlnAspAspLeuAspPheThrGluLysIleLysLeuArgPheLeuProGlnAsnLeuLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS325082" }, { "coordinates": [ { "allele": "A", "end": 201, "referenceAllele": "C", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000487634.5:c.123C>A" ], "proteinEffect": { "hgvs": "ENSP00000420591.1:p.Tyr41Ter", "hgvsWellDefined": "ENSP00000420591.1:p.Tyr41_Cys61delinsThrThrAlaThrGlyTyrProSerArgMetArgPheSerLeuArgLysHisGlyIleCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS326154" }, { "coordinates": [ { "allele": "A", "end": 172, "endIntronDirection": "+", "endIntronOffset": 4780, "referenceAllele": "C", "start": 172, "startIntronDirection": "+", "startIntronOffset": 4779 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000490284.5:c.89+4780C>A" ], "proteinEffect": { "hgvs": "ENSP00000419328.1:n.89+4780C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS328149" }, { "coordinates": [ { "allele": "A", "end": 636, "referenceAllele": "C", "start": 635 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000492597.5:c.-68C>A" ], "proteinEffect": { "hgvs": "ENSP00000419898.1:n.-68C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS329943" }, { "coordinates": [ { "allele": "A", "end": 201, "referenceAllele": "C", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000495767.5:c.123C>A" ], "proteinEffect": { "hgvs": "ENSP00000419658.1:p.Tyr41Ter", "hgvsWellDefined": "ENSP00000419658.1:p.Tyr41_Cys61delinsThrThrAlaThrGlyTyrProSerArgMetArgPheSerLeuArgLysHisGlyIleCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS332401" }, { "coordinates": [ { "allele": "A", "end": 213, "referenceAllele": "C", "start": 212 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497830.5:c.123C>A" ], "proteinEffect": { "hgvs": "ENSP00000420088.1:p.Tyr41Ter", "hgvsWellDefined": "ENSP00000420088.1:p.Tyr41_Arg47delinsThrThrAlaThrGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS333972" }, { "coordinates": [ { "allele": "A", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497959.5:c.9C>A" ], "proteinEffect": { "hgvs": "ENSP00000420648.1:p.Tyr3Ter", "hgvsWellDefined": "ENSP00000420648.1:p.Tyr3_Asp434delinsThrThrAlaThrGlyArgAsnIleThrLysValLeuIleAlaAsnArgGlyGluIleAlaCysArgValMetArgThrAlaLysLysLeuGlyValGlnThrValAlaValTyrSerGluAlaAspArgAsnSerMetHisValAspMetAlaAspGluAlaTyrSerIleGlyProAlaProSerGlnGlnSerTyrLeuSerMetGluLysIleIleGlnValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS334071" }, { "coordinates": [ { "allele": "A", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000539926.5:c.-68C>A" ], "proteinEffect": { "hgvs": "ENSP00000441253.2:n.-68C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS362129" }, { "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "C", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000610757.4:c.-205C>A" ], "proteinEffect": { "hgvs": "ENSP00000480435.1:n.-205C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS400560" }, { "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "C", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000629669.2:c.9C>A" ], "proteinEffect": { "hgvs": "ENSP00000486824.1:p.Tyr3Ter", "hgvsWellDefined": "ENSP00000486824.1:p.Tyr3_Asp434delinsThrThrAlaThrGlyArgAsnIleThrLysValLeuIleAlaAsnArgGlyGluIleAlaCysArgValMetArgThrAlaLysLysLeuGlyValGlnThrValAlaValTyrSerGluAlaAspArgAsnSerMetHisValAspMetAlaAspGluAlaTyrSerIleGlyProAlaProSerGlnGlnSerTyrLeuSerMetGluLysIleIleGlnValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407257" }, { "@id": "http://reg.genome.network/allele/PA2826831240", "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "C", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001293273.1:c.31C>A" ], "proteinEffect": { "hgvs": "NP_001280202.1:p.His11Asn", "hgvsWellDefined": "NP_001280202.1:p.His11Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS024520" }, { "@id": "http://reg.genome.network/allele/PA2499285718", "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "C", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_020166.4:c.123C>A" ], "proteinEffect": { "hgvs": "NP_064551.3:p.Tyr41Ter", "hgvsWellDefined": "NP_064551.3:p.Tyr41_Glu725delinsThrThrAlaThrGlyArgAsnIleThrLysValLeuIleAlaAsnArgGlyGluIleAlaCysArgValMetArgThrAlaLysLysLeuGlyValGlnThrValAlaValTyrSerGluAlaAspArgAsnSerMetHisValAspMetAlaAspGluAlaTyrSerIleGlyProAlaProSerGlnGlnSerTyrLeuSerMetGluLysIleIleGlnValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" 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{ "coordinates": [ { "allele": "A", "end": 822, "referenceAllele": "C", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512992.1:c.9C>A" ], "proteinEffect": { "hgvs": "XP_011511294.1:p.Tyr3Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS080247" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "C", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512993.1:c.123C>A" ], "proteinEffect": { "hgvs": "XP_011511295.1:p.Tyr41Ter", "hgvsWellDefined": "XP_011511295.1:p.Tyr41_Asp472delinsThrThrAlaThrGlyArgAsnIleThrLysValLeuIleAlaAsnArgGlyGluIleAlaCysArgValMetArgThrAlaLysLysLeuGlyValGlnThrValAlaValTyrSerGluAlaAspArgAsnSerMetHisValAspMetAlaAspGluAlaTyrSerIleGlyProAlaProSerGlnGlnSerTyrLeuSerMetGluLysIleIleGlnValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080248" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "C", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_241502.2:n.270C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116060" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "C", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_924159.1:n.270C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121219" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "C", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001363880.1:c.-68C>A" ], "proteinEffect": { "hgvs": "NP_001350809.1:n.-68C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS523624" }, { "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "C", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512992.2:c.9C>A" ], "proteinEffect": { "hgvs": "XP_011511294.1:p.Tyr3Ter", "hgvsWellDefined": "XP_011511294.1:p.Tyr3_Glu687delinsThrThrAlaThrGlyArgAsnIleThrLysValLeuIleAlaAsnArgGlyGluIleAlaCysArgValMetArgThrAlaLysLysLeuGlyValGlnThrValAlaValTyrSerGluAlaAspArgAsnSerMetHisValAspMetAlaAspGluAlaTyrSerIleGlyProAlaProSerGlnGlnSerTyrLeuSerMetGluLysIleIleGlnValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542749" }, { "coordinates": [ { "allele": "A", "end": 246, "referenceAllele": "C", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740207.2:n.246C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590430" }, { "coordinates": [ { "allele": "A", "end": 246, "referenceAllele": "C", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740208.2:n.246C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590431" }, { "coordinates": [ { "allele": "A", "end": 216, "referenceAllele": "C", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740209.2:n.216C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590432" }, { "coordinates": [ { "allele": "A", "end": 213, "referenceAllele": "C", "start": 212 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740210.1:n.213C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590433" }, { "coordinates": [ { "allele": "A", "end": 246, "referenceAllele": "C", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_002959553.1:n.246C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS605485" }, { "coordinates": [ { "allele": "A", "end": 246, "referenceAllele": "C", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_002959554.1:n.246C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS605486" }, { "coordinates": [ { "allele": "A", "end": 216, "referenceAllele": "C", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_241502.3:n.216C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS605840" }, { "@id": "http://reg.genome.network/allele/PA2499285718", "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "C", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_020166.5:c.123C>A" ], "proteinEffect": { "hgvs": "NP_064551.3:p.Tyr41Ter", "hgvsWellDefined": "NP_064551.3:p.Tyr41_Glu725delinsThrThrAlaThrGlyArgAsnIleThrLysValLeuIleAlaAsnArgGlyGluIleAlaCysArgValMetArgThrAlaLysLysLeuGlyValGlnThrValAlaValTyrSerGluAlaAspArgAsnSerMetHisValAspMetAlaAspGluAlaTyrSerIleGlyProAlaProSerGlnGlnSerTyrLeuSerMetGluLysIleIleGlnValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS669908", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265594.9:c.123C>A" }, "RefSeq": { "hgvs": "NM_020166.5:c.123C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265594.4:p.Tyr41Ter" }, "RefSeq": { "hgvs": "NP_064551.3:p.Tyr41Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826831240", "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "C", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001293273.2:c.31C>A" ], "proteinEffect": { "hgvs": "NP_001280202.1:p.His11Asn", "hgvsWellDefined": "NP_001280202.1:p.His11Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS716765" }, { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "C", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120639.2:n.179C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730741" }, { "coordinates": [ { "allele": "A", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120640.2:n.790C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730742" } ], "type": "nucleotide" }