{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA355321667", "communityStandardTitle": [ "NM_020166.5(MCCC1):c.220C>T (p.Gln74Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1953786[alleleid]", "alleleId": 1953786, "preferredName": "NM_020166.5(MCCC1):c.220C>T (p.Gln74Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1900449", "RCV": [ "RCV002576507" ], "variationId": 1900449 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.182810250G>A?assembly=hg19", "id": "chr3:g.182810250G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.183092462G>A?assembly=hg38", "id": "chr3:g.183092462G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1162953685", "rs": 1162953685 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-182810250-G-A?dataset=gnomad_r2_1", "id": "3-182810250-G-A", "variant": "3:182810250 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-183092462-G-A?dataset=gnomad_r4", "id": "3-183092462-G-A", "variant": "3:183092462 G / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 183092462, "referenceAllele": "G", "start": 183092461 } ], "hgvs": [ "NC_000003.12:g.183092462G>A", "CM000665.2:g.183092462G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 182810250, "referenceAllele": "G", "start": 182810249 } ], "hgvs": [ "NC_000003.11:g.182810250G>A", "CM000665.1:g.182810250G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 184292944, "referenceAllele": "G", "start": 184292943 } ], "hgvs": [ "NC_000003.10:g.184292944G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 12116, "referenceAllele": "C", "start": 12115 } ], "hgvs": [ "NG_008100.1:g.12116C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000845" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 276, "referenceAllele": "C", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000265594.9:c.220C>T" ], "proteinEffect": { "hgvs": "ENSP00000265594.4:p.Gln74Ter", "hgvsWellDefined": 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"startIntronDirection": "+", "startIntronOffset": 2096 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000476176.5:c.136+2097C>T" ], "proteinEffect": { "hgvs": "ENSP00000420433.1:n.136+2097C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS317298" }, { "coordinates": [ { "allele": "T", "end": 275, "referenceAllele": "C", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000486226.1:c.220C>T" ], "proteinEffect": { "hgvs": "ENSP00000420223.1:p.Gln74Ter", "hgvsWellDefined": "ENSP00000420223.1:p.Gln74_Thr112delinsThrValAlaValTyrSerGluAlaAspArgAsnSerMetHisValAspMetGlnAspAspLeuAspPheThrGluLysIleLysLeuArgPheLeuProGlnAsnLeuLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS325082" }, { "coordinates": [ { "allele": "T", "end": 214, "endIntronDirection": "+", "endIntronOffset": 2097, "referenceAllele": "C", 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"startIntronOffset": 2096 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000492597.5:c.-55+2097C>T" ], "proteinEffect": { "hgvs": "ENSP00000419898.1:n.-55+2097C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS329943" }, { "coordinates": [ { "allele": "T", "end": 214, "endIntronDirection": "+", "endIntronOffset": 2097, "referenceAllele": "C", "start": 214, "startIntronDirection": "+", "startIntronOffset": 2096 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000495767.5:c.136+2097C>T" ], "proteinEffect": { "hgvs": "ENSP00000419658.1:n.136+2097C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS332401" }, { "coordinates": [ { "allele": "T", "end": 226, "endIntronDirection": "+", "endIntronOffset": 2097, "referenceAllele": "C", "start": 226, "startIntronDirection": "+", "startIntronOffset": 2096 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497830.5:c.136+2097C>T" ], "proteinEffect": { "hgvs": "ENSP00000420088.1:n.136+2097C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS333972" }, { "coordinates": [ { "allele": "T", "end": 887, "referenceAllele": "C", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497959.5:c.106C>T" ], "proteinEffect": { "hgvs": "ENSP00000420648.1:p.Gln36Ter", "hgvsWellDefined": "ENSP00000420648.1:p.Gln36_Asp434delinsThrValAlaValTyrSerGluAlaAspArgAsnSerMetHisValAspMetAlaAspGluAlaTyrSerIleGlyProAlaProSerGlnGlnSerTyrLeuSerMetGluLysIleIleGlnValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS334071" }, { "coordinates": [ { "allele": "T", "end": 156, "endIntronDirection": "+", "endIntronOffset": 2097, "referenceAllele": "C", "start": 156, "startIntronDirection": "+", "startIntronOffset": 2096 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000539926.5:c.-55+2097C>T" ], "proteinEffect": { "hgvs": "ENSP00000441253.2:n.-55+2097C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS362129" }, { "coordinates": [ { "allele": "T", "end": 357, "referenceAllele": "C", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000610757.4:c.-108C>T" ], "proteinEffect": { "hgvs": "ENSP00000480435.1:n.-108C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS400560" }, { "coordinates": [ { "allele": "T", "end": 357, "referenceAllele": "C", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000629669.2:c.106C>T" ], "proteinEffect": { "hgvs": "ENSP00000486824.1:p.Gln36Ter", "hgvsWellDefined": "ENSP00000486824.1:p.Gln36_Asp434delinsThrValAlaValTyrSerGluAlaAspArgAsnSerMetHisValAspMetAlaAspGluAlaTyrSerIleGlyProAlaProSerGlnGlnSerTyrLeuSerMetGluLysIleIleGlnValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" 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"NP_064551.3:p.Gln74_Glu725delinsThrValAlaValTyrSerGluAlaAspArgAsnSerMetHisValAspMetAlaAspGluAlaTyrSerIleGlyProAlaProSerGlnGlnSerTyrLeuSerMetGluLysIleIleGlnValAlaLysThrSerAlaAlaGlnAlaIleHisProGlyCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" 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"startIntronOffset": 2096 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120639.2:n.192+2097C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730741" }, { "coordinates": [ { "allele": "T", "end": 887, "referenceAllele": "C", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120640.2:n.887C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730742" } ], "type": "nucleotide" }