{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5174529", "communityStandardTitle": [ "NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357771[alleleid]", "alleleId": 357771, "preferredName": "NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370257", "RCV": [ "RCV000410939" ], "variationId": 370257 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-111656266-G-T", "id": "9-111656266-G-T", "variant": "9:111656266 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.111656266G>T?assembly=hg19", "id": "chr9:g.111656266G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.108893986G>T?assembly=hg38", "id": "chr9:g.108893986G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/749052963", "rs": 749052963 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-111656266-G-T?dataset=gnomad_r2_1", "id": "9-111656266-G-T", "variant": "9:111656266 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-108893986-G-T?dataset=gnomad_r4", "id": "9-108893986-G-T", "variant": "9:108893986 G / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 108893986, "referenceAllele": "G", "start": 108893985 } ], "hgvs": [ "NC_000009.12:g.108893986G>T", "CM000671.2:g.108893986G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 111656266, "referenceAllele": "G", "start": 111656265 } ], "hgvs": [ "NC_000009.11:g.111656266G>T", "CM000671.1:g.111656266G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 110696087, "referenceAllele": "G", "start": 110696086 } ], "hgvs": [ "NC_000009.10:g.110696087G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 45343, "referenceAllele": "C", "start": 45342 } ], "hgvs": [ "NG_008788.1:g.45343C>A", "LRG_251:g.45343C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001215" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3133, "referenceAllele": "C", "start": 3132 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000374647.10:c.2817C>A" ], "proteinEffect": { "hgvs": "ENSP00000363779.5:p.Tyr939Ter", "hgvsWellDefined": "ENSP00000363779.5:p.Tyr939_Asp1332delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751468", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374647.10:c.2817C>A" }, "RefSeq": { "hgvs": "NM_003640.5:c.2817C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363779.5:p.Tyr939Ter" }, "RefSeq": { "hgvs": "NP_003631.2:p.Tyr939Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2314, "referenceAllele": "C", "start": 2313 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000495759.6:c.*1427C>A" ], "proteinEffect": { "hgvs": "ENSP00000433514.2:n.*1427C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS757811" }, { "coordinates": [ { "allele": "A", "end": 3122, "referenceAllele": "C", "start": 3121 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674535.1:c.2817C>A" ], "proteinEffect": { "hgvs": "ENSP00000502142.1:p.Tyr939Ter", "hgvsWellDefined": "ENSP00000502142.1:p.Tyr939_Ser1302delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProMetLeuSerPheLeuTyrHisGlnArgSerThrGluGluProSerGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774487" }, { "coordinates": [ { "allele": "A", "end": 5902, "referenceAllele": "C", "start": 5901 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674704.1:n.5902C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774631" }, { "coordinates": [ { "allele": "A", "end": 3430, "referenceAllele": "C", "start": 3429 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674836.1:n.3430C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774738" }, { "coordinates": [ { "allele": "A", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674890.1:c.*52C>A" ], "proteinEffect": { "hgvs": "ENSP00000501870.1:n.*52C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774783" }, { "coordinates": [ { "allele": "A", "end": 2926, "referenceAllele": "C", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674938.1:c.2475C>A" ], "proteinEffect": { "hgvs": "ENSP00000502427.1:p.Tyr825Ter", "hgvsWellDefined": "ENSP00000502427.1:p.Tyr825_Asp1218delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774824" }, { "coordinates": [ { "allele": "A", "end": 3192, "referenceAllele": "C", "start": 3191 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674948.1:c.2475C>A" ], "proteinEffect": { "hgvs": "ENSP00000501602.1:p.Tyr825Ter", "hgvsWellDefined": "ENSP00000501602.1:p.Tyr825_Asp1218delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774832" }, { "coordinates": [ { "allele": "A", "end": 3122, "referenceAllele": "C", "start": 3121 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675052.1:c.2817C>A" ], "proteinEffect": { "hgvs": "ENSP00000502664.1:p.Tyr939Ter", "hgvsWellDefined": "ENSP00000502664.1:p.Tyr939_Glu1343delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAlaArgProThrProProLeuProProLeuLeuGlnProThrGlnArgGlyAspAspLysAspGluAspLeuTyrAspAspProLeuProPheAsnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774927" }, { "coordinates": [ { "allele": "A", "end": 3122, "referenceAllele": "C", "start": 3121 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675078.1:c.2817C>A" ], "proteinEffect": { "hgvs": "ENSP00000501549.1:p.Tyr939Ter", "hgvsWellDefined": "ENSP00000501549.1:p.Tyr939_Ser1299delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProThrTrpGlyGluGlyValLeuLeuCysCysProSerTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774947" }, { "coordinates": [ { "allele": "A", "end": 2936, "referenceAllele": "C", "start": 2935 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675215.1:c.*2041C>A" ], "proteinEffect": { "hgvs": "ENSP00000502558.1:n.*2041C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775066" }, { "coordinates": [ { "allele": "A", "end": 4644, "referenceAllele": "C", "start": 4643 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675233.1:n.4644C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775081" }, { "coordinates": [ { "allele": "A", "end": 2817, "referenceAllele": "C", "start": 2816 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675321.1:c.2817C>A" ], "proteinEffect": { "hgvs": "ENSP00000502751.1:p.Tyr939Ter", "hgvsWellDefined": "ENSP00000502751.1:p.Tyr939_His1184delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuGlyAspHisProArgIleAlaGluLysArgSerGlyArgSerThrAlaSerLysLysAlaValArgTrpArgThrTrpProSerTrpArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775156" }, { "coordinates": [ { "allele": "A", "end": 4774, "referenceAllele": "C", "start": 4773 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675325.1:n.4774C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775159" }, { "coordinates": [ { "allele": "A", "end": 2848, "referenceAllele": "C", "start": 2847 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675335.1:c.2848C>A" ], "proteinEffect": { "hgvs": "ENSP00000502182.1:n.2848C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775167" }, { "coordinates": [ { "allele": "A", "end": 4552, "referenceAllele": "C", "start": 4551 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675400.1:n.4552C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775225" }, { "coordinates": [ { "allele": "A", "end": 3120, "referenceAllele": "C", "start": 3119 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675406.1:c.2817C>A" ], "proteinEffect": { "hgvs": "ENSP00000501893.1:p.Tyr939Ter", "hgvsWellDefined": "ENSP00000501893.1:p.Tyr939_Asp1332delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" 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"ENSP00000439367.1:p.Tyr590_Asp983delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360651" }, { "@id": "http://reg.genome.network/allele/PA645427412", "coordinates": [ { "allele": "A", "end": 3337, "referenceAllele": "C", "start": 3336 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.3:c.2817C>A", "LRG_251t1:c.2817C>A" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Tyr939Ter", "hgvsWellDefined": "NP_003631.2:p.Tyr939_Asp1332delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028869" }, { "coordinates": [ { "allele": "A", "end": 2907, "referenceAllele": "C", "start": 2906 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_005252285.2:c.2475C>A" ], "proteinEffect": { "hgvs": "XP_005252342.1:p.Tyr825Ter", "hgvsWellDefined": "XP_005252342.1:p.Tyr825_Asp1218delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059890" }, { "coordinates": [ { "allele": "A", "end": 3133, "referenceAllele": "C", "start": 3132 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519136.1:c.2817C>A" ], "proteinEffect": { "hgvs": "XP_011517438.1:p.Tyr939Ter", "hgvsWellDefined": "XP_011517438.1:p.Tyr939_Asp1346delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086309" }, { "coordinates": [ { "allele": "A", "end": 2907, "referenceAllele": "C", "start": 2906 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519137.1:c.2475C>A" ], "proteinEffect": { "hgvs": "XP_011517439.1:p.Tyr825Ter", "hgvsWellDefined": "XP_011517439.1:p.Tyr825_Asp1232delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086310" }, { "coordinates": [ { "allele": "A", "end": 3195, "referenceAllele": "C", "start": 3194 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XR_929859.1:n.3195C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS125988" }, { "@id": "http://reg.genome.network/allele/PA2826988778", "coordinates": [ { "allele": "A", "end": 3196, "referenceAllele": "C", "start": 3195 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001318360.1:c.2475C>A" ], "proteinEffect": { "hgvs": "NP_001305289.1:p.Tyr825Ter", "hgvsWellDefined": "NP_001305289.1:p.Tyr825_Asp1218delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512851" }, { "@id": "http://reg.genome.network/allele/PA2827346683", "coordinates": [ { "allele": "A", "end": 3153, "referenceAllele": "C", "start": 3152 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001330749.1:c.1770C>A" ], "proteinEffect": { "hgvs": "NP_001317678.1:p.Tyr590Ter", "hgvsWellDefined": "NP_001317678.1:p.Tyr590_Asp983delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517073" }, { "@id": "http://reg.genome.network/allele/PA645427412", "coordinates": [ { "allele": "A", "end": 3341, "referenceAllele": "C", "start": 3340 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.4:c.2817C>A" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Tyr939Ter", "hgvsWellDefined": "NP_003631.2:p.Tyr939_Asp1332delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525117" }, { "coordinates": [ { "allele": "A", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519136.2:c.2817C>A" ], "proteinEffect": { "hgvs": "XP_011517438.1:p.Tyr939Ter", "hgvsWellDefined": "XP_011517438.1:p.Tyr939_Asp1346delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545238" }, { "coordinates": [ { "allele": "A", "end": 3206, "referenceAllele": "C", "start": 3205 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XR_929859.3:n.3206C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS609323" }, { "@id": "http://reg.genome.network/allele/PA645427412", "coordinates": [ { "allele": "A", "end": 3133, "referenceAllele": "C", "start": 3132 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.5:c.2817C>A" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Tyr939Ter", "hgvsWellDefined": "NP_003631.2:p.Tyr939_Asp1332delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374647.10:c.2817C>A" }, "RefSeq": { "hgvs": "NM_003640.5:c.2817C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363779.5:p.Tyr939Ter" }, "RefSeq": { "hgvs": "NP_003631.2:p.Tyr939Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826988778", "coordinates": [ { "allele": "A", "end": 2988, "referenceAllele": "C", "start": 2987 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001318360.2:c.2475C>A" ], "proteinEffect": { "hgvs": "NP_001305289.1:p.Tyr825Ter", "hgvsWellDefined": "NP_001305289.1:p.Tyr825_Asp1218delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684503" }, { "@id": "http://reg.genome.network/allele/PA2827346683", "coordinates": [ { "allele": "A", "end": 2945, "referenceAllele": "C", "start": 2944 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001330749.2:c.1770C>A" ], "proteinEffect": { "hgvs": "NP_001317678.1:p.Tyr590Ter", "hgvsWellDefined": "NP_001317678.1:p.Tyr590_Asp983delinsLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687100" } ], "type": "nucleotide" }