{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA88707733", "communityStandardTitle": [ "NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=561302[alleleid]", "alleleId": 561302, "preferredName": "NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/570190", "RCV": [ "RCV000690996" ], "variationId": 570190 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.182804507G>A?assembly=hg19", "id": "chr3:g.182804507G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.183086719G>A?assembly=hg38", "id": "chr3:g.183086719G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/920162850", "rs": 920162850 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-183086719-G-A?dataset=gnomad_r3", "id": "3-183086719-G-A", "variant": "3:183086719 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-183086719-G-A?dataset=gnomad_r4", "id": "3-183086719-G-A", "variant": "3:183086719 G / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 183086719, "referenceAllele": "G", "start": 183086718 } ], "hgvs": [ "NC_000003.12:g.183086719G>A", "CM000665.2:g.183086719G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 182804507, "referenceAllele": "G", "start": 182804506 } ], "hgvs": [ "NC_000003.11:g.182804507G>A", "CM000665.1:g.182804507G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 184287201, "referenceAllele": "G", "start": 184287200 } ], "hgvs": [ "NC_000003.10:g.184287201G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 17859, "referenceAllele": "C", "start": 17858 } ], "hgvs": [ "NG_008100.1:g.17859C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000845" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000265594.9:c.343C>T" ], "proteinEffect": { "hgvs": "ENSP00000265594.4:p.Gln115Ter", "hgvsWellDefined": "ENSP00000265594.4:p.Gln115_Glu725delinsValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742855", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265594.9:c.343C>T" }, "RefSeq": { "hgvs": "NM_020166.5:c.343C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265594.4:p.Gln115Ter" }, "RefSeq": { "hgvs": "NP_064551.3:p.Gln115Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000265594.8:c.343C>T" ], "proteinEffect": { "hgvs": "ENSP00000265594.4:p.Gln115Ter", "hgvsWellDefined": "ENSP00000265594.4:p.Gln115_Glu725delinsValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251776" }, { "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000466650.5:c.*62C>T" ], "proteinEffect": { "hgvs": "ENSP00000418979.1:n.*62C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS309968" }, { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000476176.5:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000420433.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000420433.1:p.Gln68Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS317298" }, { "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000486226.1:c.*100C>T" ], "proteinEffect": { "hgvs": "ENSP00000420223.1:n.*100C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS325082" }, { "coordinates": [ { "allele": "T", "end": 214, "endIntronDirection": "+", "endIntronOffset": 7840, "referenceAllele": "C", "start": 214, "startIntronDirection": "+", "startIntronOffset": 7839 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000487634.5:c.136+7840C>T" ], "proteinEffect": { "hgvs": "ENSP00000420591.1:n.136+7840C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS326154" }, { "coordinates": [ { "allele": "T", "end": 172, "endIntronDirection": "+", "endIntronOffset": 12633, "referenceAllele": "C", "start": 172, "startIntronDirection": "+", "startIntronOffset": 12632 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000490284.5:c.89+12633C>T" ], "proteinEffect": { "hgvs": "ENSP00000419328.1:n.89+12633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS328149" }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000492597.5:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000419898.1:p.Gln6Ter", "hgvsWellDefined": "ENSP00000419898.1:p.Gln6_Glu616delinsValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329943" }, { "coordinates": [ { "allele": "T", "end": 214, "endIntronDirection": "+", "endIntronOffset": 7840, "referenceAllele": "C", "start": 214, "startIntronDirection": "+", "startIntronOffset": 7839 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000495767.5:c.136+7840C>T" ], "proteinEffect": { "hgvs": "ENSP00000419658.1:n.136+7840C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS332401" }, { "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497830.5:c.*62C>T" ], "proteinEffect": { "hgvs": "ENSP00000420088.1:n.*62C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS333972" }, { "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497959.5:c.229C>T" ], "proteinEffect": { "hgvs": "ENSP00000420648.1:p.Gln77Ter", "hgvsWellDefined": "ENSP00000420648.1:p.Gln77_Asp434delinsValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS334071" }, { "coordinates": [ { "allele": "T", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000539926.5:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000441253.2:p.Gln6Ter", "hgvsWellDefined": "ENSP00000441253.2:p.Gln6_Glu575delinsValAlaLysThrSerAlaAlaGlnHisIleGlnSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362129" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000610757.4:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000480435.1:p.Gln6Ter", "hgvsWellDefined": "ENSP00000480435.1:p.Gln6_Glu575delinsValAlaLysThrSerAlaAlaGlnHisIleGlnSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400560" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000629669.2:c.229C>T" ], "proteinEffect": { "hgvs": "ENSP00000486824.1:p.Gln77Ter", "hgvsWellDefined": "ENSP00000486824.1:p.Gln77_Asp434delinsValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407257" }, { "@id": "http://reg.genome.network/allele/PA2826831255", "coordinates": [ { "allele": "T", "end": 353, "referenceAllele": "C", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001293273.1:c.114C>T" ], "proteinEffect": { "hgvs": "NP_001280202.1:p.Phe38=" }, "referenceSequence": "http://reg.genome.network/refseq/RS024520" }, { "@id": "http://reg.genome.network/allele/PA2829910449", "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_020166.4:c.343C>T" ], "proteinEffect": { "hgvs": "NP_064551.3:p.Gln115Ter", "hgvsWellDefined": "NP_064551.3:p.Gln115_Glu725delinsValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036231" }, { "coordinates": [ { "allele": "T", "end": 283, "endIntronDirection": "+", "endIntronOffset": 7840, "referenceAllele": "C", "start": 283, "startIntronDirection": "+", "startIntronOffset": 7839 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120639.1:n.283+7840C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055514" }, { "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120640.1:n.1010C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055515" }, { "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_006713702.1:c.16C>T" ], "proteinEffect": { "hgvs": "XP_006713765.1:p.Gln6Ter", "hgvsWellDefined": "XP_006713765.1:p.Gln6_Glu616delinsValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070312" }, { "coordinates": [ { "allele": "T", "end": 1042, "referenceAllele": "C", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512992.1:c.229C>T" ], "proteinEffect": { "hgvs": "XP_011511294.1:p.Gln77Ter", "hgvsWellDefined": "XP_011511294.1:p.Gln77_Glu687delinsValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080247" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512993.1:c.343C>T" ], "proteinEffect": { "hgvs": "XP_011511295.1:p.Gln115Ter", "hgvsWellDefined": "XP_011511295.1:p.Gln115_Asp472delinsValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080248" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_241502.2:n.490C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116060" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_924159.1:n.490C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS121219" }, { "@id": "http://reg.genome.network/allele/PA2828125585", "coordinates": [ { "allele": "T", "end": 353, "referenceAllele": "C", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001363880.1:c.16C>T" ], "proteinEffect": { "hgvs": "NP_001350809.1:p.Gln6Ter", "hgvsWellDefined": "NP_001350809.1:p.Gln6_Glu616delinsValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523624" }, { "coordinates": [ { "allele": "T", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512992.2:c.229C>T" ], "proteinEffect": { "hgvs": "XP_011511294.1:p.Gln77Ter", "hgvsWellDefined": "XP_011511294.1:p.Gln77_Glu687delinsValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" 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