{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374429033", "communityStandardTitle": [ "NM_003640.5(ELP1):c.1249C>T (p.Gln417Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1954546[alleleid]", "alleleId": 1954546, "preferredName": "NM_003640.5(ELP1):c.1249C>T (p.Gln417Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1903807", "RCV": [ "RCV002573116" ], "variationId": 1903807 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.111673401G>A?assembly=hg19", "id": "chr9:g.111673401G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.108911121G>A?assembly=hg38", "id": "chr9:g.108911121G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1301344134", "rs": 1301344134 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-111673401-G-A?dataset=gnomad_r2_1", "id": "9-111673401-G-A", "variant": "9:111673401 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-108911121-G-A?dataset=gnomad_r4", "id": "9-108911121-G-A", "variant": "9:108911121 G / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 108911121, "referenceAllele": "G", "start": 108911120 } ], "hgvs": [ "NC_000009.12:g.108911121G>A", "CM000671.2:g.108911121G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 111673401, "referenceAllele": "G", "start": 111673400 } ], "hgvs": [ "NC_000009.11:g.111673401G>A", "CM000671.1:g.111673401G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 110713222, "referenceAllele": "G", "start": 110713221 } ], "hgvs": [ "NC_000009.10:g.110713222G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 28208, "referenceAllele": "C", "start": 28207 } ], "hgvs": [ "NG_008788.1:g.28208C>T", "LRG_251:g.28208C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001215" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1565, "referenceAllele": "C", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000374647.10:c.1249C>T" ], "proteinEffect": { "hgvs": "ENSP00000363779.5:p.Gln417Ter", "hgvsWellDefined": "ENSP00000363779.5:p.Gln417_Asp1332delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751468", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374647.10:c.1249C>T" }, "RefSeq": { "hgvs": "NM_003640.5:c.1249C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363779.5:p.Gln417Ter" }, "RefSeq": { "hgvs": "NP_003631.2:p.Gln417Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 857, "endIntronDirection": "-", "endIntronOffset": 2716, "referenceAllele": "C", "start": 857, "startIntronDirection": "-", "startIntronOffset": 2717 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000495759.6:c.553-2717C>T" ], "proteinEffect": { "hgvs": "ENSP00000433514.2:n.553-2717C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS757811" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674535.1:c.1249C>T" ], "proteinEffect": { "hgvs": "ENSP00000502142.1:p.Gln417Ter", "hgvsWellDefined": "ENSP00000502142.1:p.Gln417_Ser1302delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProMetLeuSerPheLeuTyrHisGlnArgSerThrGluGluProSerGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774487" }, { "coordinates": [ { "allele": "T", "end": 3056, "referenceAllele": "C", "start": 3055 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674704.1:n.3056C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774631" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674836.1:n.1554C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774738" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674890.1:c.1249C>T" ], "proteinEffect": { "hgvs": "ENSP00000501870.1:p.Gln417Ter", "hgvsWellDefined": "ENSP00000501870.1:p.Gln417_Ser928delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysPheSerLeuIleIlePheLeuGlySerGlnArgIleSerSerIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774783" }, { "coordinates": [ { "allele": "T", "end": 1358, "referenceAllele": "C", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674938.1:c.907C>T" ], "proteinEffect": { "hgvs": "ENSP00000502427.1:p.Gln303Ter", "hgvsWellDefined": "ENSP00000502427.1:p.Gln303_Asp1218delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774824" }, { "coordinates": [ { "allele": "T", "end": 1624, "referenceAllele": "C", "start": 1623 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674948.1:c.907C>T" ], "proteinEffect": { "hgvs": "ENSP00000501602.1:p.Gln303Ter", "hgvsWellDefined": "ENSP00000501602.1:p.Gln303_Asp1218delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774832" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675052.1:c.1249C>T" ], "proteinEffect": { "hgvs": "ENSP00000502664.1:p.Gln417Ter", "hgvsWellDefined": "ENSP00000502664.1:p.Gln417_Glu1343delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAlaArgProThrProProLeuProProLeuLeuGlnProThrGlnArgGlyAspAspLysAspGluAspLeuTyrAspAspProLeuProPheAsnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774927" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675078.1:c.1249C>T" ], "proteinEffect": { "hgvs": "ENSP00000501549.1:p.Gln417Ter", "hgvsWellDefined": "ENSP00000501549.1:p.Gln417_Ser1299delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProThrTrpGlyGluGlyValLeuLeuCysCysProSerTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774947" }, { "coordinates": [ { "allele": "T", "end": 1368, "referenceAllele": "C", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675215.1:c.*473C>T" ], "proteinEffect": { "hgvs": "ENSP00000502558.1:n.*473C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775066" }, { "coordinates": [ { "allele": "T", "end": 3076, "referenceAllele": "C", "start": 3075 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675233.1:n.3076C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775081" }, { "coordinates": [ { "allele": "T", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675321.1:c.1249C>T" ], "proteinEffect": { "hgvs": "ENSP00000502751.1:p.Gln417Ter", "hgvsWellDefined": "ENSP00000502751.1:p.Gln417_His1184delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuGlyAspHisProArgIleAlaGluLysArgSerGlyArgSerThrAlaSerLysLysAlaValArgTrpArgThrTrpProSerTrpArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775156" }, { "coordinates": [ { "allele": "T", "end": 3045, "referenceAllele": "C", "start": 3044 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675325.1:n.3045C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775159" }, { "coordinates": [ { "allele": "T", "end": 1280, "referenceAllele": "C", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675335.1:c.1280C>T" ], "proteinEffect": { "hgvs": "ENSP00000502182.1:p.Pro427Leu", "hgvsWellDefined": "ENSP00000502182.1:p.Pro427Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS775167" }, { "coordinates": [ { "allele": "T", "end": 2922, "referenceAllele": "C", "start": 2921 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675400.1:n.2922C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775225" }, { "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675406.1:c.1249C>T" ], "proteinEffect": { "hgvs": "ENSP00000501893.1:p.Gln417Ter", "hgvsWellDefined": "ENSP00000501893.1:p.Gln417_Asp1332delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775231" }, { "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675458.1:c.1342C>T" ], "proteinEffect": { "hgvs": "ENSP00000501754.1:n.1342C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775277" }, { "coordinates": [ { "allele": "T", "end": 3045, "referenceAllele": "C", "start": 3044 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675507.1:n.3045C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775317" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675535.1:c.1249C>T" ], "proteinEffect": { "hgvs": "ENSP00000501667.1:p.Gln417Ter", "hgvsWellDefined": "ENSP00000501667.1:p.Gln417_Ser810delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysArgArgCysHisGluAspHisValProCysThrSerTyrGlnGlnCysLeuProValGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775340" }, { "coordinates": [ { "allele": "T", "end": 3045, "referenceAllele": "C", "start": 3044 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675566.1:n.3045C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775366" }, { "coordinates": [ { "allele": "T", "end": 4297, "referenceAllele": "C", "start": 4296 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675602.1:n.4297C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775397" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675647.1:n.1554C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775439" }, { "coordinates": [ { "allele": "T", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675711.1:c.1249C>T" ], "proteinEffect": { "hgvs": "ENSP00000502485.1:p.Gln417Ter", "hgvsWellDefined": "ENSP00000502485.1:p.Gln417_Lys1091delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnArgTrpGlyValThrSerCysProArgTrpSerGluThrProGlyLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775494" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675727.1:c.1249C>T" ], "proteinEffect": { "hgvs": "ENSP00000501722.1:p.Gln417Ter", "hgvsWellDefined": "ENSP00000501722.1:p.Gln417_Gly1295delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLysTrpThrValIlePheLeuSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775506" }, { "coordinates": [ { "allele": "T", "end": 2883, "referenceAllele": "C", "start": 2882 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675748.1:n.2883C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775526" }, { "coordinates": [ { "allele": "T", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675765.1:c.1249C>T" ], "proteinEffect": { "hgvs": "ENSP00000502640.1:p.Gln417Ter", "hgvsWellDefined": "ENSP00000502640.1:p.Gln417_Leu892delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyArgAspProLeuThrGluLysValLeuLysValAlaValThrAlaThrSerLeuLeuGlnGluMetLeuProLeuIleLeuMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775539" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675825.1:c.1249C>T" ], "proteinEffect": { "hgvs": "ENSP00000502632.1:p.Gln417Ter", "hgvsWellDefined": "ENSP00000502632.1:p.Gln417_Asp1346delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775593" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675877.1:n.1554C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775641" }, { "coordinates": [ { "allele": "T", "end": 3037, "referenceAllele": "C", "start": 3036 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675893.1:c.*2318C>T" ], "proteinEffect": { "hgvs": "ENSP00000502001.1:n.*2318C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775655" }, { "coordinates": [ { "allele": "T", "end": 3045, "referenceAllele": "C", "start": 3044 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675943.1:n.3045C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775696" }, { "coordinates": [ { "allele": "T", "end": 1463, "referenceAllele": "C", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675979.1:c.*492C>T" ], "proteinEffect": { "hgvs": "ENSP00000502208.1:n.*492C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775725" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676044.1:c.1249C>T" ], "proteinEffect": { "hgvs": "ENSP00000502378.1:p.Gln417Ter", "hgvsWellDefined": "ENSP00000502378.1:p.Gln417_Lys812delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysArgLeuLysSerAsnGlyIlePheLeuSerAspAspLeuSerProGlnLeuPheAsnGluThrLeuSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775782" }, { "coordinates": [ { "allele": "T", "end": 3045, "referenceAllele": "C", "start": 3044 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676086.1:n.3045C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775820" }, { "coordinates": [ { "allele": "T", "end": 3077, "referenceAllele": "C", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676121.1:n.3077C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775850" }, { "coordinates": [ { "allele": "T", "end": 1455, "referenceAllele": "C", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676237.1:c.1150C>T" ], "proteinEffect": { "hgvs": "ENSP00000501828.1:p.Gln384Ter", "hgvsWellDefined": "ENSP00000501828.1:p.Gln384_Asp1313delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775950" }, { "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "C", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676416.1:c.907C>T" ], "proteinEffect": { "hgvs": "ENSP00000501660.1:p.Gln303Ter", "hgvsWellDefined": "ENSP00000501660.1:p.Gln303_Asp1232delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776100" }, { "coordinates": [ { "allele": "T", "end": 3045, "referenceAllele": "C", "start": 3044 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676424.1:n.3045C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776106" }, { "coordinates": [ { "allele": "T", "end": 5718, "referenceAllele": "C", "start": 5717 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676429.1:n.5718C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776111" }, { "coordinates": [ { "allele": "T", "end": 1557, "referenceAllele": "C", "start": 1556 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000374647.9:c.1249C>T" ], "proteinEffect": { "hgvs": "ENSP00000363779.5:p.Gln417Ter", "hgvsWellDefined": "ENSP00000363779.5:p.Gln417_Asp1332delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270343" }, { "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000537196.1:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000439367.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000439367.1:p.Gln68_Asp983delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360651" }, { "@id": "http://reg.genome.network/allele/PA2829462328", "coordinates": [ { "allele": "T", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.3:c.1249C>T", "LRG_251t1:c.1249C>T" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Gln417Ter", "hgvsWellDefined": "NP_003631.2:p.Gln417_Asp1332delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028869" }, { "coordinates": [ { "allele": "T", "end": 1339, "referenceAllele": "C", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_005252285.2:c.907C>T" ], "proteinEffect": { "hgvs": "XP_005252342.1:p.Gln303Ter", "hgvsWellDefined": "XP_005252342.1:p.Gln303_Asp1218delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059890" }, { "coordinates": [ { "allele": "T", "end": 1565, "referenceAllele": "C", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519136.1:c.1249C>T" ], "proteinEffect": { "hgvs": "XP_011517438.1:p.Gln417Ter", "hgvsWellDefined": "XP_011517438.1:p.Gln417_Asp1346delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086309" }, { "coordinates": [ { "allele": "T", "end": 1339, "referenceAllele": "C", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519137.1:c.907C>T" ], "proteinEffect": { "hgvs": "XP_011517439.1:p.Gln303Ter", "hgvsWellDefined": "XP_011517439.1:p.Gln303_Asp1232delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086310" }, { "coordinates": [ { "allele": "T", "end": 1565, "referenceAllele": "C", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XR_929859.1:n.1565C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS125988" }, { "@id": "http://reg.genome.network/allele/PA2826988325", "coordinates": [ { "allele": "T", "end": 1628, "referenceAllele": "C", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001318360.1:c.907C>T" ], "proteinEffect": { "hgvs": "NP_001305289.1:p.Gln303Ter", "hgvsWellDefined": "NP_001305289.1:p.Gln303_Asp1218delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512851" }, { "@id": "http://reg.genome.network/allele/PA2580204027", "coordinates": [ { "allele": "T", "end": 1585, "referenceAllele": "C", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001330749.1:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001317678.1:p.Gln68Ter", "hgvsWellDefined": "NP_001317678.1:p.Gln68_Asp983delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517073" }, { "@id": "http://reg.genome.network/allele/PA2829462328", "coordinates": [ { "allele": "T", "end": 1773, "referenceAllele": "C", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.4:c.1249C>T" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Gln417Ter", "hgvsWellDefined": "NP_003631.2:p.Gln417_Asp1332delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525117" }, { "coordinates": [ { "allele": "T", "end": 1576, "referenceAllele": "C", "start": 1575 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519136.2:c.1249C>T" ], "proteinEffect": { "hgvs": "XP_011517438.1:p.Gln417Ter", "hgvsWellDefined": "XP_011517438.1:p.Gln417_Asp1346delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545238" }, { "coordinates": [ { "allele": "T", "end": 1576, "referenceAllele": "C", "start": 1575 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XR_929859.3:n.1576C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609323" }, { "@id": "http://reg.genome.network/allele/PA2829462328", "coordinates": [ { "allele": "T", "end": 1565, "referenceAllele": "C", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.5:c.1249C>T" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Gln417Ter", "hgvsWellDefined": "NP_003631.2:p.Gln417_Asp1332delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374647.10:c.1249C>T" }, "RefSeq": { "hgvs": "NM_003640.5:c.1249C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363779.5:p.Gln417Ter" }, "RefSeq": { "hgvs": "NP_003631.2:p.Gln417Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826988325", "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001318360.2:c.907C>T" ], "proteinEffect": { "hgvs": "NP_001305289.1:p.Gln303Ter", "hgvsWellDefined": "NP_001305289.1:p.Gln303_Asp1218delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684503" }, { "@id": "http://reg.genome.network/allele/PA2580204027", "coordinates": [ { "allele": "T", "end": 1377, "referenceAllele": "C", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001330749.2:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001317678.1:p.Gln68Ter", "hgvsWellDefined": "NP_001317678.1:p.Gln68_Asp983delinsLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687100" } ], "type": "nucleotide" }