{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA274959", "communityStandardTitle": [ "NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191076[alleleid]", "alleleId": 191076, "preferredName": "NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193913", "RCV": [ "RCV000174145", "RCV000723480", "RCV001275510" ], "variationId": 193913 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-182759508-G-A", "id": "3-182759508-G-A", "variant": "3:182759508 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.182759508G>A?assembly=hg19", "id": "chr3:g.182759508G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.183041720G>A?assembly=hg38", "id": "chr3:g.183041720G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/544349961", "rs": 544349961 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-182759508-G-A?dataset=gnomad_r2_1", "id": "3-182759508-G-A", "variant": "3:182759508 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-183041720-G-A?dataset=gnomad_r3", "id": "3-183041720-G-A", "variant": "3:183041720 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-183041720-G-A?dataset=gnomad_r4", "id": "3-183041720-G-A", "variant": "3:183041720 G / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 183041720, "referenceAllele": "G", "start": 183041719 } ], "hgvs": [ "NC_000003.12:g.183041720G>A", "CM000665.2:g.183041720G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 182759508, "referenceAllele": "G", "start": 182759507 } ], "hgvs": [ "NC_000003.11:g.182759508G>A", "CM000665.1:g.182759508G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 184242202, "referenceAllele": "G", "start": 184242201 } ], "hgvs": [ "NC_000003.10:g.184242202G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 62858, "referenceAllele": "C", "start": 62857 } ], "hgvs": [ "NG_008100.1:g.62858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000845" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1170, "referenceAllele": "C", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000265594.9:c.1114C>T" ], "proteinEffect": { "hgvs": "ENSP00000265594.4:p.Gln372Ter", "hgvsWellDefined": "ENSP00000265594.4:p.Gln372_Glu725delinsGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742855", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265594.9:c.1114C>T" }, "RefSeq": { "hgvs": "NM_020166.5:c.1114C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265594.4:p.Gln372Ter" }, "RefSeq": { "hgvs": "NP_064551.3:p.Gln372Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000265594.8:c.1114C>T" ], "proteinEffect": { "hgvs": "ENSP00000265594.4:p.Gln372Ter", "hgvsWellDefined": "ENSP00000265594.4:p.Gln372_Glu725delinsGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251776" }, { "coordinates": [ { "allele": "T", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000476176.5:c.973C>T" ], "proteinEffect": { "hgvs": "ENSP00000420433.1:p.Gln325Ter", "hgvsWellDefined": "ENSP00000420433.1:p.Gln325Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS317298" }, { "coordinates": [ { "allele": "T", "end": 1490, "referenceAllele": "C", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000492597.5:c.787C>T" ], "proteinEffect": { "hgvs": "ENSP00000419898.1:p.Gln263Ter", "hgvsWellDefined": "ENSP00000419898.1:p.Gln263_Glu616delinsGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329943" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000495767.5:c.*695C>T" ], "proteinEffect": { "hgvs": "ENSP00000419658.1:n.*695C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS332401" }, { "coordinates": [ { "allele": "T", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497830.5:c.*711C>T" ], "proteinEffect": { "hgvs": "ENSP00000420088.1:n.*711C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS333972" }, { "coordinates": [ { "allele": "T", "end": 1781, "referenceAllele": "C", "start": 1780 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497959.5:c.1000C>T" ], "proteinEffect": { "hgvs": "ENSP00000420648.1:p.Gln334Ter", "hgvsWellDefined": "ENSP00000420648.1:p.Gln334_Asp434delinsGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS334071" }, { "coordinates": [ { "allele": "T", "end": 874, "referenceAllele": "C", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000539926.5:c.664C>T" ], "proteinEffect": { "hgvs": "ENSP00000441253.2:p.Gln222Ter", "hgvsWellDefined": "ENSP00000441253.2:p.Gln222_Glu575delinsGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362129" }, { "coordinates": [ { "allele": "T", "end": 1128, "referenceAllele": "C", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000610757.4:c.664C>T" ], "proteinEffect": { "hgvs": "ENSP00000480435.1:p.Gln222Ter", "hgvsWellDefined": "ENSP00000480435.1:p.Gln222_Glu575delinsGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400560" }, { "coordinates": [ { "allele": "T", "end": 1251, "referenceAllele": "C", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000629669.2:c.1000C>T" ], "proteinEffect": { "hgvs": "ENSP00000486824.1:p.Gln334Ter", "hgvsWellDefined": "ENSP00000486824.1:p.Gln334_Asp434delinsGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407257" }, { "@id": "http://reg.genome.network/allele/PA2826831382", "coordinates": [ { "allele": "T", "end": 1002, "referenceAllele": "C", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001293273.1:c.763C>T" ], "proteinEffect": { "hgvs": "NP_001280202.1:p.Gln255Ter", "hgvsWellDefined": "NP_001280202.1:p.Gln255_Glu608delinsGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024520" }, { "@id": "http://reg.genome.network/allele/PA274960", "coordinates": [ { "allele": "T", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_020166.4:c.1114C>T" ], "proteinEffect": { "hgvs": "NP_064551.3:p.Gln372Ter", "hgvsWellDefined": "NP_064551.3:p.Gln372_Glu725delinsGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036231" }, { "coordinates": [ { "allele": "T", "end": 1028, "referenceAllele": "C", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120639.1:n.1028C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055514" }, { "coordinates": [ { "allele": "T", "end": 1781, "referenceAllele": "C", "start": 1780 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120640.1:n.1781C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055515" }, { "coordinates": [ { "allele": "T", "end": 1067, "referenceAllele": "C", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_006713702.1:c.787C>T" ], "proteinEffect": { "hgvs": "XP_006713765.1:p.Gln263Ter", "hgvsWellDefined": "XP_006713765.1:p.Gln263_Glu616delinsGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" 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