{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA150601", "communityStandardTitle": [ "NM_025233.7(COASY):c.175C>T (p.Gln59Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106535[alleleid]", "alleleId": 106535, "preferredName": "NM_025233.7(COASY):c.175C>T (p.Gln59Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100663", "RCV": [ "RCV000087063" ], "variationId": 100663 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.40714815C>T?assembly=hg19", "id": "chr17:g.40714815C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.42562797C>T?assembly=hg38", "id": "chr17:g.42562797C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587777136", "rs": 587777136 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 42562797, "referenceAllele": "C", "start": 42562796 } ], "hgvs": [ "NC_000017.11:g.42562797C>T", "CM000679.2:g.42562797C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 40714815, "referenceAllele": "C", "start": 40714814 } ], "hgvs": [ "NC_000017.10:g.40714815C>T", "CM000679.1:g.40714815C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 37968341, "referenceAllele": "C", "start": 37968340 } ], "hgvs": [ "NC_000017.9:g.37968341C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 738, "referenceAllele": "C", "start": 737 } ], "hgvs": [ "NG_029442.1:g.738C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004386" }, { "coordinates": [ { "allele": "T", "end": 5724, "referenceAllele": "C", "start": 5723 } ], "hgvs": [ "NG_034110.1:g.5724C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005746" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 650, "referenceAllele": "C", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "ENST00000393818.3:c.175C>T" ], "proteinEffect": { "hgvs": "ENSP00000377406.1:p.Gln59Ter", "hgvsWellDefined": "ENSP00000377406.1:p.Gln59_Asp564delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753175", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393818.3:c.175C>T" }, "RefSeq": { "hgvs": "NM_025233.7:c.175C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377406.1:p.Gln59Ter" }, "RefSeq": { "hgvs": "NP_079509.5:p.Gln59Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 631, "referenceAllele": "C", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "ENST00000393818.2:c.175C>T" ], "proteinEffect": { "hgvs": "ENSP00000377406.1:p.Gln59Ter", "hgvsWellDefined": "ENSP00000377406.1:p.Gln59_Asp564delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275830" }, { "coordinates": [ { "allele": "T", "end": 259, "referenceAllele": "C", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "ENST00000421097.6:c.175C>T" ], "proteinEffect": { "hgvs": "ENSP00000393564.2:p.Gln59Ter", "hgvsWellDefined": "ENSP00000393564.2:p.Gln59_Asp564delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286634" }, { "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "ENST00000585811.1:c.175C>T" ], "proteinEffect": { "hgvs": "ENSP00000467174.1:p.Gln59Ter", "hgvsWellDefined": "ENSP00000467174.1:p.Gln59_Arg91del" }, "referenceSequence": "http://reg.genome.network/refseq/RS388962" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "ENST00000585909.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000467519.1:p.Gln88Ter", "hgvsWellDefined": "ENSP00000467519.1:p.Gln88Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS389027" }, { "coordinates": [ { "allele": "T", "end": 258, "referenceAllele": "C", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "ENST00000586771.1:c.175C>T" ], "proteinEffect": { "hgvs": "ENSP00000466838.1:p.Gln59Ter", "hgvsWellDefined": "ENSP00000466838.1:p.Gln59Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS389625" }, { "coordinates": [ { "allele": "T", "end": 337, "endIntronDirection": "-", "endIntronOffset": 135, "referenceAllele": "C", "start": 337, "startIntronDirection": "-", "startIntronOffset": 136 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "ENST00000587157.1:c.77-136C>T" ], "proteinEffect": { "hgvs": "ENSP00000467322.1:n.77-136C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS389880" }, { "coordinates": [ { "allele": "T", "end": 272, "referenceAllele": "C", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "ENST00000587214.1:c.175C>T" ], "proteinEffect": { "hgvs": "ENSP00000468583.1:p.Gln59Ter", "hgvsWellDefined": "ENSP00000468583.1:p.Gln59Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS389924" }, { "coordinates": [ { "allele": "T", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "ENST00000587858.5:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000468755.1:p.Gln88Ter", "hgvsWellDefined": "ENSP00000468755.1:p.Gln88_Pro128del" }, "referenceSequence": "http://reg.genome.network/refseq/RS390375" }, { "coordinates": [ { "allele": "T", "end": 387, "referenceAllele": "C", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "ENST00000590958.5:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000464814.1:p.Gln88Ter", "hgvsWellDefined": "ENSP00000464814.1:p.Gln88_Asp593delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392558" }, { "coordinates": [ { "allele": "T", "end": 72, "endIntronDirection": "-", "endIntronOffset": 135, "referenceAllele": "C", "start": 72, "startIntronDirection": "-", "startIntronOffset": 136 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "ENST00000591779.5:c.-575-136C>T" ], "proteinEffect": { "hgvs": "ENSP00000467687.1:n.-575-136C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS393119" }, { "@id": "http://reg.genome.network/allele/PA2825411133", "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "NM_001042529.2:c.175C>T" ], "proteinEffect": { "hgvs": "NP_001035994.1:p.Gln59Ter", "hgvsWellDefined": "NP_001035994.1:p.Gln59_Asp564delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009739" }, { "@id": "http://reg.genome.network/allele/PA915961080", "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "NM_001042532.3:c.262C>T" ], "proteinEffect": { "hgvs": "NP_001035997.2:p.Gln88Ter", "hgvsWellDefined": "NP_001035997.2:p.Gln88_Asp593delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009740" }, { "@id": "http://reg.genome.network/allele/PA150602", "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "NM_025233.6:c.175C>T" ], "proteinEffect": { "hgvs": "NP_079509.5:p.Gln59Ter", "hgvsWellDefined": "NP_079509.5:p.Gln59_Asp564delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038291" }, { "coordinates": [ { "allele": "T", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "XM_006722116.2:c.262C>T" ], "proteinEffect": { "hgvs": "XP_006722179.1:p.Gln88Ter", "hgvsWellDefined": "XP_006722179.1:p.Gln88_Asp593delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074421" }, { "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "XM_011525300.1:c.175C>T" ], "proteinEffect": { "hgvs": "XP_011523602.1:p.Gln59Ter", "hgvsWellDefined": "XP_011523602.1:p.Gln59_Asp564delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092419" }, { "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "XM_011525301.1:c.175C>T" ], "proteinEffect": { "hgvs": "XP_011523603.1:p.Gln59Ter", "hgvsWellDefined": "XP_011523603.1:p.Gln59_Leu466delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluAspProIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092420" }, { "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "XR_429926.1:n.668C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118534" }, { "coordinates": [ { "allele": "T", "end": 462, "referenceAllele": "C", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "XM_006722116.4:c.262C>T" ], "proteinEffect": { "hgvs": "XP_006722179.1:p.Gln88Ter", "hgvsWellDefined": "XP_006722179.1:p.Gln88_Asp593delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540469" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "XM_011525300.2:c.175C>T" ], "proteinEffect": { "hgvs": "XP_011523602.1:p.Gln59Ter", "hgvsWellDefined": "XP_011523602.1:p.Gln59_Asp564delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547827" }, { "@id": "http://reg.genome.network/allele/PA150602", "coordinates": [ { "allele": "T", "end": 650, "referenceAllele": "C", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "NM_025233.7:c.175C>T" ], "proteinEffect": { "hgvs": "NP_079509.5:p.Gln59Ter", "hgvsWellDefined": "NP_079509.5:p.Gln59_Asp564delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670946", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393818.3:c.175C>T" }, "RefSeq": { "hgvs": "NM_025233.7:c.175C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377406.1:p.Gln59Ter" }, "RefSeq": { "hgvs": "NP_079509.5:p.Gln59Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825411133", "coordinates": [ { "allele": "T", "end": 258, "referenceAllele": "C", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "NM_001042529.3:c.175C>T" ], "proteinEffect": { "hgvs": "NP_001035994.1:p.Gln59Ter", "hgvsWellDefined": "NP_001035994.1:p.Gln59_Asp564delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676048" }, { "@id": "http://reg.genome.network/allele/PA915961080", "coordinates": [ { "allele": "T", "end": 390, "referenceAllele": "C", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "NM_001042532.4:c.262C>T" ], "proteinEffect": { "hgvs": "NP_001035997.2:p.Gln88Ter", "hgvsWellDefined": "NP_001035997.2:p.Gln88_Asp593delinsAlaThrPheGluValLeuAspPheIleThrHisLeuTyrAlaGlyAlaAspValHisArgHisLeuAspValArgIleLeuLeuThrAsnIleArgThrLysSerThrPheLeuProProLeuProThrSerValGlnAsnLeuAlaHisProProGluValValLeuThrAspPheGlnThrLeuAspGlySerGlnTyrAsnProValLysGlnGlnLeuValArgTyrAlaThrSerCysTyrSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676049" } ], "type": "nucleotide" }