{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374429390", "communityStandardTitle": [ "NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1784408[alleleid]", "alleleId": 1784408, "preferredName": "NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1726881", "RCV": [ "RCV002310565" ], "variationId": 1726881 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.111674620A>T?assembly=hg19", "id": "chr9:g.111674620A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.108912340A>T?assembly=hg38", "id": "chr9:g.108912340A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1274989641", "rs": 1274989641 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 108912340, "referenceAllele": "A", "start": 108912339 } ], "hgvs": [ "NC_000009.12:g.108912340A>T", "CM000671.2:g.108912340A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 111674620, "referenceAllele": "A", "start": 111674619 } ], "hgvs": [ "NC_000009.11:g.111674620A>T", "CM000671.1:g.111674620A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 110714441, "referenceAllele": "A", "start": 110714440 } ], "hgvs": [ "NC_000009.10:g.110714441A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 26989, "referenceAllele": "T", "start": 26988 } ], "hgvs": [ "NG_008788.1:g.26989T>A", "LRG_251:g.26989T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001215" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "T", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000374647.10:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000363779.5:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000363779.5:p.Tyr371_Asp1332delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751468", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374647.10:c.1113T>A" }, "RefSeq": { "hgvs": "NM_003640.5:c.1113T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363779.5:p.Tyr371Ter" }, "RefSeq": { "hgvs": "NP_003631.2:p.Tyr371Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 857, "endIntronDirection": "-", "endIntronOffset": 3935, "referenceAllele": "T", "start": 857, "startIntronDirection": "-", "startIntronOffset": 3936 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000495759.6:c.553-3936T>A" ], "proteinEffect": { "hgvs": "ENSP00000433514.2:n.553-3936T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS757811" }, { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674535.1:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000502142.1:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000502142.1:p.Tyr371_Ser1302delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProMetLeuSerPheLeuTyrHisGlnArgSerThrGluGluProSerGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774487" }, { "coordinates": [ { "allele": "A", "end": 2920, "referenceAllele": "T", "start": 2919 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674704.1:n.2920T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774631" }, { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674836.1:n.1418T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774738" }, { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674890.1:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000501870.1:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000501870.1:p.Tyr371_Ser928delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysPheSerLeuIleIlePheLeuGlySerGlnArgIleSerSerIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774783" }, { "coordinates": [ { "allele": "A", "end": 1222, "referenceAllele": "T", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674938.1:c.771T>A" ], "proteinEffect": { "hgvs": "ENSP00000502427.1:p.Tyr257Ter", "hgvsWellDefined": "ENSP00000502427.1:p.Tyr257_Asp1218delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774824" }, { "coordinates": [ { "allele": "A", "end": 1488, "referenceAllele": "T", "start": 1487 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674948.1:c.771T>A" ], "proteinEffect": { "hgvs": "ENSP00000501602.1:p.Tyr257Ter", "hgvsWellDefined": "ENSP00000501602.1:p.Tyr257_Asp1218delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774832" }, { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675052.1:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000502664.1:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000502664.1:p.Tyr371_Glu1343delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAlaArgProThrProProLeuProProLeuLeuGlnProThrGlnArgGlyAspAspLysAspGluAspLeuTyrAspAspProLeuProPheAsnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774927" }, { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675078.1:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000501549.1:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000501549.1:p.Tyr371_Ser1299delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProThrTrpGlyGluGlyValLeuLeuCysCysProSerTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774947" }, { "coordinates": [ { "allele": "A", "end": 1232, "referenceAllele": "T", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675215.1:c.*337T>A" ], "proteinEffect": { "hgvs": "ENSP00000502558.1:n.*337T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775066" }, { "coordinates": [ { "allele": "A", "end": 2909, "referenceAllele": "T", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675233.1:n.2909T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775081" }, { "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "T", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675321.1:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000502751.1:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000502751.1:p.Tyr371_His1184delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuGlyAspHisProArgIleAlaGluLysArgSerGlyArgSerThrAlaSerLysLysAlaValArgTrpArgThrTrpProSerTrpArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775156" }, { "coordinates": [ { "allele": "A", "end": 2909, "referenceAllele": "T", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675325.1:n.2909T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775159" }, { "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "T", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675335.1:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000502182.1:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000502182.1:p.Tyr371_Glu446delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlySerLeuIleLeuPhePheLeuPheHisCysArgGlnGlyValGlyAspSerLeuProAlaAspCysGlySerAlaSerHisValHisLeuProThrAlaValProThrProCysGluSerSerHisIleLeuSerThrProSerLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775167" }, { "coordinates": [ { "allele": "A", "end": 2786, "referenceAllele": "T", "start": 2785 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675400.1:n.2786T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775225" }, { "coordinates": [ { "allele": "A", "end": 1416, "referenceAllele": "T", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675406.1:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000501893.1:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000501893.1:p.Tyr371_Asp1332delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775231" }, { "coordinates": [ { "allele": "A", "end": 1206, "referenceAllele": "T", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675458.1:c.1206T>A" ], "proteinEffect": { "hgvs": "ENSP00000501754.1:n.1206T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775277" }, { "coordinates": [ { "allele": "A", "end": 2909, "referenceAllele": "T", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675507.1:n.2909T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775317" }, { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675535.1:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000501667.1:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000501667.1:p.Tyr371_Ser810delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysArgArgCysHisGluAspHisValProCysThrSerTyrGlnGlnCysLeuProValGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775340" }, { "coordinates": [ { "allele": "A", "end": 2909, "referenceAllele": "T", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675566.1:n.2909T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775366" }, { "coordinates": [ { "allele": "A", "end": 4161, "referenceAllele": "T", "start": 4160 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675602.1:n.4161T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775397" }, { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675647.1:n.1418T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775439" }, { "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "T", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675711.1:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000502485.1:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000502485.1:p.Tyr371_Lys1091delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnArgTrpGlyValThrSerCysProArgTrpSerGluThrProGlyLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775494" }, { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675727.1:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000501722.1:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000501722.1:p.Tyr371_Gly1295delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLysTrpThrValIlePheLeuSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775506" }, { "coordinates": [ { "allele": "A", "end": 2747, "referenceAllele": "T", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675748.1:n.2747T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775526" }, { "coordinates": [ { "allele": "A", "end": 1427, "referenceAllele": "T", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675765.1:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000502640.1:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000502640.1:p.Tyr371_Leu892delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyArgAspProLeuThrGluLysValLeuLysValAlaValThrAlaThrSerLeuLeuGlnGluMetLeuProLeuIleLeuMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775539" }, { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675825.1:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000502632.1:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000502632.1:p.Tyr371_Asp1346delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775593" }, { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675877.1:n.1418T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775641" }, { "coordinates": [ { "allele": "A", "end": 2901, "referenceAllele": "T", "start": 2900 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675893.1:c.*2182T>A" ], "proteinEffect": { "hgvs": "ENSP00000502001.1:n.*2182T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775655" }, { "coordinates": [ { "allele": "A", "end": 2909, "referenceAllele": "T", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675943.1:n.2909T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775696" }, { "coordinates": [ { "allele": "A", "end": 1327, "referenceAllele": "T", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675979.1:c.*356T>A" ], "proteinEffect": { "hgvs": "ENSP00000502208.1:n.*356T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775725" }, { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676044.1:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000502378.1:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000502378.1:p.Tyr371_Lys812delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysArgLeuLysSerAsnGlyIlePheLeuSerAspAspLeuSerProGlnLeuPheAsnGluThrLeuSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775782" }, { "coordinates": [ { "allele": "A", "end": 2909, "referenceAllele": "T", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676086.1:n.2909T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775820" }, { "coordinates": [ { "allele": "A", "end": 2941, "referenceAllele": "T", "start": 2940 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676121.1:n.2941T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775850" }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "T", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676237.1:c.1014T>A" ], "proteinEffect": { "hgvs": "ENSP00000501828.1:p.Tyr338Ter", "hgvsWellDefined": "ENSP00000501828.1:p.Tyr338_Asp1313delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775950" }, { "coordinates": [ { "allele": "A", "end": 1103, "referenceAllele": "T", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676416.1:c.771T>A" ], "proteinEffect": { "hgvs": "ENSP00000501660.1:p.Tyr257Ter", "hgvsWellDefined": "ENSP00000501660.1:p.Tyr257_Asp1232delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776100" }, { "coordinates": [ { "allele": "A", "end": 2909, "referenceAllele": "T", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676424.1:n.2909T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776106" }, { "coordinates": [ { "allele": "A", "end": 5582, "referenceAllele": "T", "start": 5581 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676429.1:n.5582T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776111" }, { "coordinates": [ { "allele": "A", "end": 1421, "referenceAllele": "T", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000374647.9:c.1113T>A" ], "proteinEffect": { "hgvs": "ENSP00000363779.5:p.Tyr371Ter", "hgvsWellDefined": "ENSP00000363779.5:p.Tyr371_Asp1332delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270343" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "T", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000537196.1:c.66T>A" ], "proteinEffect": { "hgvs": "ENSP00000439367.1:p.Tyr22Ter", "hgvsWellDefined": "ENSP00000439367.1:p.Tyr22_Asp983delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360651" }, { "@id": "http://reg.genome.network/allele/PA2580294143", "coordinates": [ { "allele": "A", "end": 1633, "referenceAllele": "T", "start": 1632 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.3:c.1113T>A", "LRG_251t1:c.1113T>A" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Tyr371Ter", "hgvsWellDefined": "NP_003631.2:p.Tyr371_Asp1332delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028869" }, { "coordinates": [ { "allele": "A", "end": 1203, "referenceAllele": "T", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_005252285.2:c.771T>A" ], "proteinEffect": { "hgvs": "XP_005252342.1:p.Tyr257Ter", "hgvsWellDefined": "XP_005252342.1:p.Tyr257_Asp1218delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059890" }, { "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "T", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519136.1:c.1113T>A" ], "proteinEffect": { "hgvs": "XP_011517438.1:p.Tyr371Ter", "hgvsWellDefined": "XP_011517438.1:p.Tyr371_Asp1346delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086309" }, { "coordinates": [ { "allele": "A", "end": 1203, "referenceAllele": "T", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519137.1:c.771T>A" ], "proteinEffect": { "hgvs": "XP_011517439.1:p.Tyr257Ter", "hgvsWellDefined": "XP_011517439.1:p.Tyr257_Asp1232delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086310" }, { "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "T", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XR_929859.1:n.1429T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS125988" }, { "@id": "http://reg.genome.network/allele/PA2826988276", "coordinates": [ { "allele": "A", "end": 1492, "referenceAllele": "T", "start": 1491 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001318360.1:c.771T>A" ], "proteinEffect": { "hgvs": "NP_001305289.1:p.Tyr257Ter", "hgvsWellDefined": "NP_001305289.1:p.Tyr257_Asp1218delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512851" }, { "@id": "http://reg.genome.network/allele/PA2827345849", "coordinates": [ { "allele": "A", "end": 1449, "referenceAllele": "T", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001330749.1:c.66T>A" ], "proteinEffect": { "hgvs": "NP_001317678.1:p.Tyr22Ter", "hgvsWellDefined": "NP_001317678.1:p.Tyr22_Asp983delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517073" }, { "@id": "http://reg.genome.network/allele/PA2580294143", "coordinates": [ { "allele": "A", "end": 1637, "referenceAllele": "T", "start": 1636 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.4:c.1113T>A" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Tyr371Ter", "hgvsWellDefined": "NP_003631.2:p.Tyr371_Asp1332delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525117" }, { "coordinates": [ { "allele": "A", "end": 1440, "referenceAllele": "T", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519136.2:c.1113T>A" ], "proteinEffect": { "hgvs": "XP_011517438.1:p.Tyr371Ter", "hgvsWellDefined": "XP_011517438.1:p.Tyr371_Asp1346delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545238" }, { "coordinates": [ { "allele": "A", "end": 1440, "referenceAllele": "T", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XR_929859.3:n.1440T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS609323" }, { "@id": "http://reg.genome.network/allele/PA2580294143", "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "T", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.5:c.1113T>A" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Tyr371Ter", "hgvsWellDefined": "NP_003631.2:p.Tyr371_Asp1332delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374647.10:c.1113T>A" }, "RefSeq": { "hgvs": "NM_003640.5:c.1113T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363779.5:p.Tyr371Ter" }, "RefSeq": { "hgvs": "NP_003631.2:p.Tyr371Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826988276", "coordinates": [ { "allele": "A", "end": 1284, "referenceAllele": "T", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001318360.2:c.771T>A" ], "proteinEffect": { "hgvs": "NP_001305289.1:p.Tyr257Ter", "hgvsWellDefined": "NP_001305289.1:p.Tyr257_Asp1218delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684503" }, { "@id": "http://reg.genome.network/allele/PA2827345849", "coordinates": [ { "allele": "A", "end": 1241, "referenceAllele": "T", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001330749.2:c.66T>A" ], "proteinEffect": { "hgvs": "NP_001317678.1:p.Tyr22Ter", "hgvsWellDefined": "NP_001317678.1:p.Tyr22_Asp983delinsAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687100" } ], "type": "nucleotide" }