{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA356155705", "communityStandardTitle": [ "NM_153717.3(EVC):c.1327C>T (p.Arg443Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1323548[alleleid]", "alleleId": 1323548, "preferredName": "NM_153717.3(EVC):c.1327C>T (p.Arg443Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1332830", "RCV": [ "RCV001806404", "RCV002541450" ], "variationId": 1332830 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5755523C>T?assembly=hg19", "id": "chr4:g.5755523C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5753796C>T?assembly=hg38", "id": "chr4:g.5753796C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1730760070", "rs": 1730760070 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-5753796-C-T?dataset=gnomad_r3", "id": "4-5753796-C-T", "variant": "4:5753796 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-5753796-C-T?dataset=gnomad_r4", "id": "4-5753796-C-T", "variant": "4:5753796 C / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5753796, "referenceAllele": "C", "start": 5753795 } ], "hgvs": [ "NC_000004.12:g.5753796C>T", "CM000666.2:g.5753796C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5755523, "referenceAllele": "C", "start": 5755522 } ], "hgvs": [ "NC_000004.11:g.5755523C>T", "CM000666.1:g.5755523C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5806424, "referenceAllele": "C", "start": 5806423 } ], "hgvs": [ "NC_000004.10:g.5806424C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 47600, "referenceAllele": "C", "start": 47599 } ], "hgvs": [ "NG_008843.1:g.47600C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001238" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "ENST00000264956.11:c.1327C>T" ], "proteinEffect": { "hgvs": "ENSP00000264956.6:p.Arg443Ter", "hgvsWellDefined": "ENSP00000264956.6:p.Arg443_Leu992delinsGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742754", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264956.11:c.1327C>T" }, "RefSeq": { "hgvs": "NM_153717.3:c.1327C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264956.6:p.Arg443Ter" }, "RefSeq": { "hgvs": "NP_714928.1:p.Arg443Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1511, "referenceAllele": "C", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "ENST00000264956.10:c.1327C>T" ], "proteinEffect": { "hgvs": "ENSP00000264956.6:p.Arg443Ter", "hgvsWellDefined": "ENSP00000264956.6:p.Arg443_Leu992delinsGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251631" }, { "coordinates": [ { "allele": "A", "end": 1647, "endIntronDirection": "-", "endIntronOffset": 5483, "referenceAllele": "G", "start": 1647, "startIntronDirection": "-", "startIntronOffset": 5484 } ], "gene": "http://reg.genome.network/gene/GN002365", "geneNCBI_id": 1400, "geneSymbol": "CRMP1", "hgvs": [ "ENST00000506216.5:n.1648-5484G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS337808" }, { "coordinates": [ { "allele": "T", "end": 1493, "referenceAllele": "C", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "ENST00000509451.1:c.1327C>T" ], "proteinEffect": { "hgvs": "ENSP00000426774.1:p.Arg443Ter", "hgvsWellDefined": "ENSP00000426774.1:p.Arg443_Val535delinsGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnLysAlaMetArgArgHisArgAspThrGlyLysGluAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340211" }, { "coordinates": [ { "allele": "T", "end": 390, "referenceAllele": "C", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "ENST00000514919.1:n.390C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS344281" }, { "@id": "http://reg.genome.network/allele/PA2826909594", "coordinates": [ { "allele": "T", "end": 1511, "referenceAllele": "C", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_001306090.1:c.1327C>T" ], "proteinEffect": { "hgvs": "NP_001293019.1:p.Arg443Ter", "hgvsWellDefined": "NP_001293019.1:p.Arg443_Leu991delinsGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025981" }, { "@id": "http://reg.genome.network/allele/PA2826910510", "coordinates": [ { "allele": "T", "end": 1511, "referenceAllele": "C", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_001306092.1:c.1327C>T" ], "proteinEffect": { "hgvs": "NP_001293021.1:p.Arg443Ter", "hgvsWellDefined": "NP_001293021.1:p.Arg443_Val535delinsGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnLysAlaMetArgArgHisArgAspThrGlyLysGluAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025983" }, { "@id": "http://reg.genome.network/allele/PA2573099639", "coordinates": [ { "allele": "T", "end": 1511, "referenceAllele": "C", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_153717.2:c.1327C>T" ], "proteinEffect": { "hgvs": "NP_714928.1:p.Arg443Ter", "hgvsWellDefined": "NP_714928.1:p.Arg443_Leu992delinsGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042487" }, { "coordinates": [ { "allele": "T", "end": 1517, "referenceAllele": "C", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "XM_006713865.2:c.1327C>T" ], "proteinEffect": { "hgvs": "XP_006713928.1:p.Arg443Ter", "hgvsWellDefined": "XP_006713928.1:p.Arg443_Gly931delinsGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuAlaAlaLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070393" }, { "coordinates": [ { "allele": "T", "end": 1517, "referenceAllele": "C", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "XM_006713866.2:c.1327C>T" ], "proteinEffect": { "hgvs": "XP_006713929.1:p.Arg443Ter", "hgvsWellDefined": "XP_006713929.1:p.Arg443_Gly930delinsGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuAlaLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070394" }, { "coordinates": [ { "allele": "T", "end": 1518, "referenceAllele": "C", "start": 1517 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "XM_011513419.1:c.1327C>T" ], "proteinEffect": { "hgvs": "XP_011511721.1:p.Arg443Ter", "hgvsWellDefined": "XP_011511721.1:p.Arg443_Lys596delinsGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnGlyProTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080667" }, { "coordinates": [ { "allele": "T", "end": 1517, 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"http://reg.genome.network/refseq/RS607882" }, { "coordinates": [ { "allele": "T", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "XR_924925.2:n.1507C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS607883" }, { "coordinates": [ { "allele": "T", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "XR_924926.2:n.1507C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS607884" }, { "@id": "http://reg.genome.network/allele/PA2573099639", "coordinates": [ { "allele": "T", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_153717.3:c.1327C>T" ], "proteinEffect": { "hgvs": "NP_714928.1:p.Arg443Ter", "hgvsWellDefined": "NP_714928.1:p.Arg443_Leu992delinsGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672570", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264956.11:c.1327C>T" }, "RefSeq": { "hgvs": "NM_153717.3:c.1327C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264956.6:p.Arg443Ter" }, "RefSeq": { "hgvs": "NP_714928.1:p.Arg443Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826909594", "coordinates": [ { "allele": "T", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_001306090.2:c.1327C>T" ], "proteinEffect": { "hgvs": "NP_001293019.1:p.Arg443Ter", "hgvsWellDefined": "NP_001293019.1:p.Arg443_Leu991delinsGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683849" }, { "@id": "http://reg.genome.network/allele/PA2826910510", "coordinates": [ { "allele": "T", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_001306092.2:c.1327C>T" ], "proteinEffect": { "hgvs": "NP_001293021.1:p.Arg443Ter", "hgvsWellDefined": "NP_001293021.1:p.Arg443_Val535delinsGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnLysAlaMetArgArgHisArgAspThrGlyLysGluAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683851" } ], "type": "nucleotide" }