{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA355322602", "communityStandardTitle": [ "NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1059689[alleleid]", "alleleId": 1059689, "preferredName": "NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1074168", "RCV": [ "RCV001387388" ], "variationId": 1074168 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.182759417A>C?assembly=hg19", "id": "chr3:g.182759417A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.183041629A>C?assembly=hg38", "id": "chr3:g.183041629A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2108479136", "rs": 2108479136 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 183041629, "referenceAllele": "A", "start": 183041628 } ], "hgvs": [ "NC_000003.12:g.183041629A>C", "CM000665.2:g.183041629A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 182759417, "referenceAllele": "A", "start": 182759416 } ], "hgvs": [ "NC_000003.11:g.182759417A>C", "CM000665.1:g.182759417A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 184242111, "referenceAllele": "A", "start": 184242110 } ], "hgvs": [ "NC_000003.10:g.184242111A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "G", "end": 62949, "referenceAllele": "T", "start": 62948 } ], "hgvs": [ "NG_008100.1:g.62949T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000845" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1261, "referenceAllele": "T", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000265594.9:c.1205T>G" ], "proteinEffect": { "hgvs": "ENSP00000265594.4:p.Leu402Ter", "hgvsWellDefined": "ENSP00000265594.4:p.Leu402_Glu725delinsValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742855", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265594.9:c.1205T>G" }, "RefSeq": { "hgvs": "NM_020166.5:c.1205T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265594.4:p.Leu402Ter" }, "RefSeq": { "hgvs": "NP_064551.3:p.Leu402Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1352, "referenceAllele": "T", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000265594.8:c.1205T>G" ], "proteinEffect": { "hgvs": "ENSP00000265594.4:p.Leu402Ter", "hgvsWellDefined": "ENSP00000265594.4:p.Leu402_Glu725delinsValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251776" }, { "coordinates": [ { "allele": "G", "end": 1174, "referenceAllele": "T", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000476176.5:c.1064T>G" ], "proteinEffect": { "hgvs": "ENSP00000420433.1:p.Leu355Ter", "hgvsWellDefined": "ENSP00000420433.1:p.Leu355Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS317298" }, { "coordinates": [ { "allele": "G", "end": 1581, "referenceAllele": "T", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000492597.5:c.878T>G" ], "proteinEffect": { "hgvs": "ENSP00000419898.1:p.Leu293Ter", "hgvsWellDefined": "ENSP00000419898.1:p.Leu293_Glu616delinsValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329943" }, { "coordinates": [ { "allele": "G", "end": 1050, "referenceAllele": "T", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000495767.5:c.*786T>G" ], "proteinEffect": { "hgvs": "ENSP00000419658.1:n.*786T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS332401" }, { "coordinates": [ { "allele": "G", "end": 1036, "referenceAllele": "T", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497830.5:c.*802T>G" ], "proteinEffect": { "hgvs": "ENSP00000420088.1:n.*802T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS333972" }, { "coordinates": [ { "allele": "G", "end": 1872, "referenceAllele": "T", "start": 1871 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497959.5:c.1091T>G" ], "proteinEffect": { "hgvs": "ENSP00000420648.1:p.Leu364Ter", "hgvsWellDefined": "ENSP00000420648.1:p.Leu364_Asp434delinsValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS334071" }, { "coordinates": [ { "allele": "G", "end": 965, "referenceAllele": "T", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000539926.5:c.755T>G" ], "proteinEffect": { "hgvs": "ENSP00000441253.2:p.Leu252Ter", "hgvsWellDefined": "ENSP00000441253.2:p.Leu252_Glu575delinsValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362129" }, { "coordinates": [ { "allele": "G", "end": 1219, "referenceAllele": "T", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000610757.4:c.755T>G" ], "proteinEffect": { "hgvs": "ENSP00000480435.1:p.Leu252Ter", "hgvsWellDefined": "ENSP00000480435.1:p.Leu252_Glu575delinsValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400560" }, { "coordinates": [ { "allele": "G", "end": 1342, "referenceAllele": "T", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000629669.2:c.1091T>G" ], "proteinEffect": { "hgvs": "ENSP00000486824.1:p.Leu364Ter", "hgvsWellDefined": "ENSP00000486824.1:p.Leu364_Asp434delinsValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407257" }, { "@id": "http://reg.genome.network/allele/PA2826831401", "coordinates": [ { "allele": "G", "end": 1093, "referenceAllele": "T", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001293273.1:c.854T>G" ], "proteinEffect": { "hgvs": "NP_001280202.1:p.Leu285Ter", "hgvsWellDefined": "NP_001280202.1:p.Leu285_Glu608delinsValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024520" }, { "@id": "http://reg.genome.network/allele/PA2499285731", "coordinates": [ { "allele": "G", "end": 1352, "referenceAllele": "T", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_020166.4:c.1205T>G" ], "proteinEffect": { "hgvs": "NP_064551.3:p.Leu402Ter", "hgvsWellDefined": "NP_064551.3:p.Leu402_Glu725delinsValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036231" }, { "coordinates": [ { "allele": "G", "end": 1119, "referenceAllele": "T", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120639.1:n.1119T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS055514" }, { "coordinates": [ { "allele": "G", "end": 1872, "referenceAllele": "T", "start": 1871 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120640.1:n.1872T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS055515" }, { "coordinates": [ { "allele": "G", "end": 1158, "referenceAllele": "T", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_006713702.1:c.878T>G" ], "proteinEffect": { "hgvs": "XP_006713765.1:p.Leu293Ter", "hgvsWellDefined": "XP_006713765.1:p.Leu293_Glu616delinsValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070312" }, { "coordinates": [ { "allele": "G", "end": 1904, "referenceAllele": "T", "start": 1903 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512992.1:c.1091T>G" ], "proteinEffect": { "hgvs": "XP_011511294.1:p.Leu364Ter", "hgvsWellDefined": "XP_011511294.1:p.Leu364_Glu687delinsValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" 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