{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA355331430", "communityStandardTitle": [ "NM_020166.5(MCCC1):c.382G>T (p.Gly128Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1314967[alleleid]", "alleleId": 1314967, "preferredName": "NM_020166.5(MCCC1):c.382G>T (p.Gly128Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1324699", "RCV": [ "RCV001782419" ], "variationId": 1324699 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.182790263C>A?assembly=hg19", "id": "chr3:g.182790263C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.183072475C>A?assembly=hg38", "id": "chr3:g.183072475C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2108528645", "rs": 2108528645 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 183072475, "referenceAllele": "C", "start": 183072474 } ], "hgvs": [ "NC_000003.12:g.183072475C>A", "CM000665.2:g.183072475C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 182790263, "referenceAllele": "C", "start": 182790262 } ], "hgvs": [ "NC_000003.11:g.182790263C>A", "CM000665.1:g.182790263C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 184272957, "referenceAllele": "C", "start": 184272956 } ], "hgvs": [ "NC_000003.10:g.184272957C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 32103, "referenceAllele": "G", "start": 32102 } ], "hgvs": [ "NG_008100.1:g.32103G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000845" } ], "transcriptAlleles": [ { 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"ENSP00000265594.4:p.Gly128_Glu725delinsCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742855", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265594.9:c.382G>T" }, "RefSeq": { "hgvs": "NM_020166.5:c.382G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265594.4:p.Gly128Ter" }, "RefSeq": { "hgvs": "NP_064551.3:p.Gly128Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000265594.8:c.382G>T" ], "proteinEffect": { "hgvs": "ENSP00000265594.4:p.Gly128Ter", "hgvsWellDefined": "ENSP00000265594.4:p.Gly128_Glu725delinsCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251776" }, { "coordinates": [ { "allele": "T", "end": 322, "endIntronDirection": "-", "endIntronOffset": 1117, "referenceAllele": "G", "start": 322, "startIntronDirection": "-", "startIntronOffset": 1118 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000466650.5:c.*89-1118G>T" ], "proteinEffect": { "hgvs": "ENSP00000418979.1:n.*89-1118G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS309968" }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "G", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000476176.5:c.241G>T" ], "proteinEffect": { "hgvs": "ENSP00000420433.1:p.Gly81Ter", "hgvsWellDefined": "ENSP00000420433.1:p.Gly81Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS317298" }, { "coordinates": [ { "allele": "T", "end": 533, 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"ENSP00000419328.1:p.Gln34His", "hgvsWellDefined": "ENSP00000419328.1:p.Gln34His" }, "referenceSequence": "http://reg.genome.network/refseq/RS328149" }, { "coordinates": [ { "allele": "T", "end": 758, "referenceAllele": "G", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000492597.5:c.55G>T" ], "proteinEffect": { "hgvs": "ENSP00000419898.1:p.Gly19Ter", "hgvsWellDefined": "ENSP00000419898.1:p.Gly19_Glu616delinsCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS329943" }, { "coordinates": [ { "allele": "T", "end": 227, "referenceAllele": "G", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000495767.5:c.149G>T" ], "proteinEffect": { "hgvs": "ENSP00000419658.1:p.Arg50Met", "hgvsWellDefined": "ENSP00000419658.1:p.Arg50Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS332401" }, { "coordinates": [ { "allele": "T", "end": 322, "endIntronDirection": "-", "endIntronOffset": 1117, "referenceAllele": "G", "start": 322, "startIntronDirection": "-", "startIntronOffset": 1118 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497830.5:c.*89-1118G>T" ], "proteinEffect": { "hgvs": "ENSP00000420088.1:n.*89-1118G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS333972" }, { "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000497959.5:c.268G>T" ], "proteinEffect": { "hgvs": "ENSP00000420648.1:p.Gly90Ter", "hgvsWellDefined": "ENSP00000420648.1:p.Gly90_Asp434delinsCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS334071" }, { "coordinates": [ { "allele": "T", "end": 252, "endIntronDirection": "-", "endIntronOffset": 1117, "referenceAllele": "G", "start": 252, "startIntronDirection": "-", "startIntronOffset": 1118 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000539926.5:c.43-1118G>T" ], "proteinEffect": { "hgvs": "ENSP00000441253.2:n.43-1118G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS362129" }, { "coordinates": [ { "allele": "T", "end": 506, "endIntronDirection": "-", "endIntronOffset": 1117, "referenceAllele": "G", "start": 506, "startIntronDirection": "-", "startIntronOffset": 1118 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000610757.4:c.43-1118G>T" ], "proteinEffect": { "hgvs": "ENSP00000480435.1:n.43-1118G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS400560" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "ENST00000629669.2:c.268G>T" ], "proteinEffect": { "hgvs": "ENSP00000486824.1:p.Gly90Ter", "hgvsWellDefined": "ENSP00000486824.1:p.Gly90_Asp434delinsCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407257" }, { "coordinates": [ { "allele": "T", "end": 379, "endIntronDirection": "-", "endIntronOffset": 1117, "referenceAllele": "G", "start": 379, "startIntronDirection": "-", "startIntronOffset": 1118 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001293273.1:c.141-1118G>T" ], "proteinEffect": { "hgvs": "NP_001280202.1:n.141-1118G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS024520" }, { "@id": "http://reg.genome.network/allele/PA2829910459", "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_020166.4:c.382G>T" ], "proteinEffect": { "hgvs": "NP_064551.3:p.Gly128Ter", "hgvsWellDefined": "NP_064551.3:p.Gly128_Glu725delinsCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036231" }, { "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "G", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120639.1:n.296G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055514" }, { "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120640.1:n.1049G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055515" }, { "coordinates": [ { "allele": "T", "end": 335, "referenceAllele": "G", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_006713702.1:c.55G>T" ], "proteinEffect": { "hgvs": "XP_006713765.1:p.Gly19Ter", "hgvsWellDefined": "XP_006713765.1:p.Gly19_Glu616delinsCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleValGlyLeuHisThrAsnIleAspPheLeuLeuAsnLeuSerGlyHisProGluPheGluAlaGlyAsnValHisThrAspPheIleProGlnHisHisLysGlnLeuLeuLeuSerArgLysAlaAlaAlaLysGluSerLeuCysGlnAlaAlaLeuGlyLeuIleLeuLysGluLysAlaMetThrAspThrPheThrLeuGlnAlaHisAspGlnPheSerProPheSerSerSerSerGlyArgArgLeuAsnIleSerTyrThrArgAsnMetThrLeuLysAspGlyLysAsnAsnValAlaIleAlaValThrTyrAsnHisAspGlySerTyrSerMetGlnIleGluAspLysThrPheGlnValLeuGlyAsnLeuTyrSerGluGlyAspCysThrTyrLeuLysCysSerValAsnGlyValAlaSerLysAlaLysLeuIleIleLeuGluAsnThrIleTyrLeuPheSerLysGluGlySerIleGluIleAspIleProValProLysTyrLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070312" }, { "coordinates": [ { "allele": "T", "end": 1081, "referenceAllele": "G", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512992.1:c.268G>T" ], "proteinEffect": { "hgvs": "XP_011511294.1:p.Gly90Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS080247" }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512993.1:c.382G>T" ], "proteinEffect": { "hgvs": "XP_011511295.1:p.Gly128Ter", "hgvsWellDefined": "XP_011511295.1:p.Gly128_Asp472delinsCysGlyPheLeuSerGluAsnMetGluPheAlaGluLeuCysLysGlnGluGlyIleIlePheIleGlyProProProSerAlaIleArgAspMetGlyIleLysSerThrSerLysSerIleMetAlaAlaAlaGlyValProValValGluGlyTyrHisGlyGluAspGlnSerAspGlnCysLeuLysGluHisAlaArgArgIleGlyTyrProValMetIleLysAlaValArgGlyGlyGlyGlyLysGlyMetArgIleValArgSerGluGlnGluPheGlnGluGlnLeuGluSerAlaArgArgGluAlaLysLysSerPheAsnAspAspAlaMetLeuIleGluLysPheValAspThrProArgHisValGluValGlnValPheGlyAspHisHisGlyAsnAlaValTyrLeuPheGluArgAspCysSerValGlnArgArgHisGlnLysIleIleGluGluAlaProAlaProGlyIleLysSerGluValArgLysLysLeuGlyGluAlaAlaValArgAlaAlaLysAlaValAsnTyrValGlyAlaGlyThrValGluPheIleMetAspSerLysHisAsnPheCysPheMetGluMetAsnThrArgLeuGlnValGluHisProValThrGluMetIleThrGlyThrAspLeuValGluTrpGlnLeuArgIleAlaAlaGlyGluLysIleProLeuSerGlnGluGluIleThrLeuGlnGlyHisAlaPheGluAlaArgIleTyrAlaGluAspProSerAsnAsnPheMetProValAlaGlyProLeuValHisLeuSerThrProArgAlaAspProSerThrArgIleGluThrGlyValArgGlnGlyAspGluValSerValHisTyrAspProMetIleAlaLysLeuValValTrpAlaAlaAspArgGlnAlaAlaLeuThrLysLeuArgTyrSerLeuArgGlnTyrAsnIleAsnSerLeuHisPheArgLeuAlaValGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080248" }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_241502.2:n.529G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116060" }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_924159.1:n.529G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS121219" }, { "@id": "http://reg.genome.network/allele/PA2573071717", "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NM_001363880.1:c.55G>T" ], "proteinEffect": { "hgvs": "NP_001350809.1:p.Gly19Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS523624" }, { "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "G", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XM_011512992.2:c.268G>T" ], "proteinEffect": { "hgvs": "XP_011511294.1:p.Gly90Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS542749" }, { "coordinates": [ { "allele": "T", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740207.2:n.505G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590430" }, { "coordinates": [ { "allele": "T", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740208.2:n.505G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590431" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "G", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "XR_001740209.2:n.475G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590432" }, { "coordinates": [ { "allele": "T", "end": 335, 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"geneSymbol": "MCCC1", "hgvs": [ "NR_120639.2:n.205G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730741" }, { "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN006936", "geneNCBI_id": 56922, "geneSymbol": "MCCC1", "hgvs": [ "NR_120640.2:n.1049G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730742" } ], "type": "nucleotide" }