{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA312675", "communityStandardTitle": [ "NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1214686", "active": true, "id": "COSM1214686" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200047[alleleid]", "alleleId": 200047, "preferredName": "NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203795", "RCV": [ "RCV000281372", "RCV000725859", "RCV001275513", "RCV003390913" ], "variationId": 203795 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-182775131-G-A", "id": "3-182775131-G-A", "variant": "3:182775131 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.182775131G>A?assembly=hg19", "id": "chr3:g.182775131G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.183057343G>A?assembly=hg38", "id": "chr3:g.183057343G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/185741664", "rs": 185741664 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-182775131-G-A?dataset=gnomad_r2_1", "id": "3-182775131-G-A", "variant": "3:182775131 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-183057343-G-A?dataset=gnomad_r3", "id": "3-183057343-G-A", "variant": "3:183057343 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-183057343-G-A?dataset=gnomad_r4", "id": "3-183057343-G-A", "variant": "3:183057343 G / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 183057343, "referenceAllele": "G", "start": 183057342 } ], "hgvs": [ "NC_000003.12:g.183057343G>A", "CM000665.2:g.183057343G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 182775131, "referenceAllele": "G", "start": 182775130 } ], "hgvs": [ "NC_000003.11:g.182775131G>A", "CM000665.1:g.182775131G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 184257825, "referenceAllele": "G", "start": 184257824 } ], "hgvs": [ "NC_000003.10:g.184257825G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 47235, "referenceAllele": "C", "start": 47234 } ], "hgvs": [ "NG_008100.1:g.47235C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000845" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000265594.9:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000265594.4:p.Arg281Ter", "hgvsWellDefined": "ENSP00000265594.4:p.Arg281_Glu725delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742855", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265594.9:c.841C>T" }, "RefSeq": { "hgvs": "NM_020166.5:c.841C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265594.4:p.Arg281Ter" }, "RefSeq": { "hgvs": "NP_064551.3:p.Arg281Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 988, "referenceAllele": "C", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000265594.8:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000265594.4:p.Arg281Ter", "hgvsWellDefined": "ENSP00000265594.4:p.Arg281_Glu725delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251776" }, { "coordinates": [ { "allele": "T", "end": 810, "referenceAllele": "C", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000476176.5:c.700C>T" ], "proteinEffect": { "hgvs": "ENSP00000420433.1:p.Arg234Ter", "hgvsWellDefined": "ENSP00000420433.1:p.Arg234Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS317298" }, { "coordinates": [ { "allele": "T", "end": 1217, "referenceAllele": "C", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000492597.5:c.514C>T" ], "proteinEffect": { "hgvs": "ENSP00000419898.1:p.Arg172Ter", "hgvsWellDefined": "ENSP00000419898.1:p.Arg172_Glu616delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329943" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000495767.5:c.*422C>T" ], "proteinEffect": { "hgvs": "ENSP00000419658.1:n.*422C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS332401" }, { "coordinates": [ { "allele": "T", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497830.5:c.*438C>T" ], "proteinEffect": { "hgvs": "ENSP00000420088.1:n.*438C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS333972" }, { "coordinates": [ { "allele": "T", "end": 1508, "referenceAllele": "C", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497959.5:c.727C>T" ], "proteinEffect": { "hgvs": "ENSP00000420648.1:p.Arg243Ter", "hgvsWellDefined": "ENSP00000420648.1:p.Arg243_Asp434delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS334071" }, { "coordinates": [ { "allele": "T", "end": 601, "referenceAllele": "C", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000539926.5:c.391C>T" ], "proteinEffect": { "hgvs": "ENSP00000441253.2:p.Arg131Ter", "hgvsWellDefined": "ENSP00000441253.2:p.Arg131_Glu575delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362129" }, { "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000610757.4:c.391C>T" ], "proteinEffect": { "hgvs": "ENSP00000480435.1:p.Arg131Ter", "hgvsWellDefined": "ENSP00000480435.1:p.Arg131_Glu575delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400560" }, { "coordinates": [ { "allele": "T", "end": 978, "referenceAllele": "C", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000629669.2:c.727C>T" ], "proteinEffect": { "hgvs": "ENSP00000486824.1:p.Arg243Ter", "hgvsWellDefined": "ENSP00000486824.1:p.Arg243_Asp434delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407257" }, { "@id": "http://reg.genome.network/allele/PA2826831326", "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001293273.1:c.490C>T" ], "proteinEffect": { "hgvs": "NP_001280202.1:p.Arg164Ter", "hgvsWellDefined": "NP_001280202.1:p.Arg164_Glu608delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024520" }, { "@id": "http://reg.genome.network/allele/PA312676", "coordinates": [ { "allele": "T", "end": 988, "referenceAllele": "C", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_020166.4:c.841C>T" ], "proteinEffect": { "hgvs": "NP_064551.3:p.Arg281Ter", "hgvsWellDefined": "NP_064551.3:p.Arg281_Glu725delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036231" }, { "coordinates": [ { "allele": "T", "end": 755, "referenceAllele": "C", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120639.1:n.755C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055514" }, { "coordinates": [ { "allele": "T", "end": 1508, "referenceAllele": "C", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120640.1:n.1508C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055515" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_006713702.1:c.514C>T" ], "proteinEffect": { "hgvs": "XP_006713765.1:p.Arg172Ter", "hgvsWellDefined": "XP_006713765.1:p.Arg172_Glu616delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070312" }, { "coordinates": [ { "allele": "T", "end": 1540, "referenceAllele": "C", "start": 1539 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512992.1:c.727C>T" ], "proteinEffect": { "hgvs": "XP_011511294.1:p.Arg243Ter", "hgvsWellDefined": "XP_011511294.1:p.Arg243_Glu687delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080247" }, { "coordinates": [ { "allele": "T", "end": 988, "referenceAllele": "C", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512993.1:c.841C>T" ], "proteinEffect": { "hgvs": "XP_011511295.1:p.Arg281Ter", "hgvsWellDefined": "XP_011511295.1:p.Arg281_Asp472delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080248" }, { "coordinates": [ { "allele": "T", "end": 988, "referenceAllele": "C", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_241502.2:n.988C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116060" }, { "coordinates": [ { "allele": "T", "end": 988, "referenceAllele": "C", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_924159.1:n.988C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS121219" }, { "@id": "http://reg.genome.network/allele/PA2828125657", "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001363880.1:c.514C>T" ], "proteinEffect": { "hgvs": "NP_001350809.1:p.Arg172Ter", "hgvsWellDefined": "NP_001350809.1:p.Arg172_Glu616delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523624" }, { "coordinates": [ { "allele": "T", "end": 1586, "referenceAllele": "C", "start": 1585 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512992.2:c.727C>T" ], "proteinEffect": { "hgvs": "XP_011511294.1:p.Arg243Ter", "hgvsWellDefined": "XP_011511294.1:p.Arg243_Glu687delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542749" }, { "coordinates": [ { "allele": "T", "end": 964, "referenceAllele": "C", "start": 963 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740207.2:n.964C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590430" }, { "coordinates": [ { "allele": "T", "end": 964, "referenceAllele": "C", "start": 963 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740208.2:n.964C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590431" }, { "coordinates": [ { "allele": "T", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740209.2:n.934C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590432" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740210.1:n.794C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590433" }, { "coordinates": [ { "allele": "T", "end": 964, "referenceAllele": "C", "start": 963 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_002959553.1:n.964C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605485" }, { "coordinates": [ { "allele": "T", "end": 964, "referenceAllele": "C", "start": 963 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_002959554.1:n.964C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605486" }, { "coordinates": [ { "allele": "T", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_241502.3:n.934C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605840" }, { "@id": "http://reg.genome.network/allele/PA312676", "coordinates": [ { "allele": "T", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_020166.5:c.841C>T" ], "proteinEffect": { "hgvs": "NP_064551.3:p.Arg281Ter", "hgvsWellDefined": "NP_064551.3:p.Arg281_Glu725delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS669908", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265594.9:c.841C>T" }, "RefSeq": { "hgvs": "NM_020166.5:c.841C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265594.4:p.Arg281Ter" }, "RefSeq": { "hgvs": "NP_064551.3:p.Arg281Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826831326", "coordinates": [ { "allele": "T", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001293273.2:c.490C>T" ], "proteinEffect": { "hgvs": "NP_001280202.1:p.Arg164Ter", "hgvsWellDefined": "NP_001280202.1:p.Arg164_Glu608delinsHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716765" }, { "coordinates": [ { "allele": "T", "end": 664, "referenceAllele": "C", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120639.2:n.664C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730741" }, { "coordinates": [ { "allele": "T", "end": 1508, "referenceAllele": "C", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120640.2:n.1508C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730742" } ], "type": "nucleotide" }