{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA252369", "communityStandardTitle": [ "NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17664[alleleid]", "alleleId": 17664, "preferredName": "NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2625", "RCV": [ "RCV000002743" ], "variationId": 2625 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-138386649-G-A", "id": "5-138386649-G-A", "variant": "5:138386649 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.138386649G>A?assembly=hg19", "id": "chr5:g.138386649G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.139050960G>A?assembly=hg38", "id": "chr5:g.139050960G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/119456965", "rs": 119456965 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-138386649-G-A?dataset=gnomad_r2_1", "id": "5-138386649-G-A", "variant": "5:138386649 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-139050960-G-A?dataset=gnomad_r3", "id": "5-139050960-G-A", "variant": "5:139050960 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-139050960-G-A?dataset=gnomad_r4", "id": "5-139050960-G-A", "variant": "5:139050960 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 139050960, "referenceAllele": "G", "start": 139050959 } ], "hgvs": [ "NC_000005.10:g.139050960G>A", "CM000667.2:g.139050960G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 138386649, "referenceAllele": "G", "start": 138386648 } ], "hgvs": [ "NC_000005.9:g.138386649G>A", "CM000667.1:g.138386649G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 138414548, "referenceAllele": "G", "start": 138414547 } ], "hgvs": [ "NC_000005.8:g.138414548G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 152417, "referenceAllele": "C", "start": 152416 } ], "hgvs": [ "NG_008112.1:g.152417C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000857" }, { "coordinates": [ { "allele": "T", "end": 152417, "referenceAllele": "C", "start": 152416 } ], "hgvs": [ "NG_008112.2:g.152417C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673487" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "ENST00000394817.7:c.331C>T" ], "proteinEffect": { "hgvs": "ENSP00000378294.2:p.Arg111Ter", "hgvsWellDefined": "ENSP00000378294.2:p.Arg111_Arg461delinsAsnAsnLeuLysGlyLysArgLeuAspIleAsnThrAsnThrTyrThrSerGlnAspLeuLysSerAlaLeuAlaLysPheLysGluGlyAlaGluMetGluSerSerLysGluAspLysAlaArgGlnAlaGluValLysArgLeuPheArgProIleGluGluLeuLysLysAspPheAspGluLeuAsnValValIleGluThrAspMetGlnIleMetValArgLeuIleAsnLysPheAsnSerSerSerSerSerLeuGluGluLysIleAlaAlaLeuPheAspLeuGluTyrTyrValHisGlnMetAspAsnAlaGlnAspLeuLeuSerPheGlyGlyLeuGlnValValIleAsnGlyLeuAsnSerThrGluProLeuValLysGluTyrAlaAlaPheValLeuGlyAlaAlaPheSerSerAsnProLysValGlnValGluAlaIleGluGlyGlyAlaLeuGlnLysLeuLeuValIleLeuAlaThrGluGlnProLeuThrAlaLysLysLysValLeuPheAlaLeuCysSerLeuLeuArgHisPheProTyrAlaGlnArgGlnPheLeuLysLeuGlyGlyLeuGlnValLeuArgThrLeuValGlnGluLysGlyThrGluValLeuAlaValArgValValThrLeuLeuTyrAspLeuValThrGluLysMetPheAlaGluGluGluAlaGluLeuThrGlnGluMetSerProGluLysLeuGlnGlnTyrArgGlnValHisLeuLeuProGlyLeuTrpGluGlnGlyTrpCysGluIleThrAlaHisLeuLeuAlaLeuProGluHisAspAlaArgGluLysValLeuGlnThrLeuGlyValLeuLeuThrThrCysArgAspArgTyrArgGlnAspProGlnLeuGlyArgThrLeuAlaSerLeuGlnAlaGluTyrGlnValLeuAlaSerLeuGluLeuGlnAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753314", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394817.7:c.331C>T" }, "RefSeq": { "hgvs": "NM_022464.5:c.331C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378294.2:p.Arg111Ter" }, "RefSeq": { "hgvs": "NP_071909.1:p.Arg111Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "ENST00000265195.9:c.331C>T" ], "proteinEffect": { "hgvs": "ENSP00000265195.5:p.Arg111Ter", "hgvsWellDefined": "ENSP00000265195.5:p.Arg111_Arg461delinsAsnAsnLeuLysGlyLysArgLeuAspIleAsnThrAsnThrTyrThrSerGlnAspLeuLysSerAlaLeuAlaLysPheLysGluGlyAlaGluMetGluSerSerLysGluAspLysAlaArgGlnAlaGluValLysArgLeuPheArgProIleGluGluLeuLysLysAspPheAspGluLeuAsnValValIleGluThrAspMetGlnIleMetValArgLeuIleAsnLysPheAsnSerSerSerSerSerLeuGluGluLysIleAlaAlaLeuPheAspLeuGluTyrTyrValHisGlnMetAspAsnAlaGlnAspLeuLeuSerPheGlyGlyLeuGlnValValIleAsnGlyLeuAsnSerThrGluProLeuValLysGluTyrAlaAlaPheValLeuGlyAlaAlaPheSerSerAsnProLysValGlnValGluAlaIleGluGlyGlyAlaLeuGlnLysLeuLeuValIleLeuAlaThrGluGlnProLeuThrAlaLysLysLysValLeuPheAlaLeuCysSerLeuLeuArgHisPheProTyrAlaGlnArgGlnPheLeuLysLeuGlyGlyLeuGlnValLeuArgThrLeuValGlnGluLysGlyThrGluValLeuAlaValArgValValThrLeuLeuTyrAspLeuValThrGluLysMetPheAlaGluGluGluAlaGluLeuThrGlnGluMetSerProGluLysLeuGlnGlnTyrArgGlnValHisLeuLeuProGlyLeuTrpGluGlnGlyTrpCysGluIleThrAlaHisLeuLeuAlaLeuProGluHisAspAlaArgGluLysValLeuGlnThrLeuGlyValLeuLeuThrThrCysArgAspArgTyrArgGlnAspProGlnLeuGlyArgThrLeuAlaSerLeuGlnAlaGluTyrGlnValLeuAlaSerLeuGluLeuGlnAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251695" }, { "coordinates": [ { "allele": "T", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "ENST00000394817.6:c.331C>T" ], "proteinEffect": { "hgvs": "ENSP00000378294.2:p.Arg111Ter", "hgvsWellDefined": "ENSP00000378294.2:p.Arg111_Arg461delinsAsnAsnLeuLysGlyLysArgLeuAspIleAsnThrAsnThrTyrThrSerGlnAspLeuLysSerAlaLeuAlaLysPheLysGluGlyAlaGluMetGluSerSerLysGluAspLysAlaArgGlnAlaGluValLysArgLeuPheArgProIleGluGluLeuLysLysAspPheAspGluLeuAsnValValIleGluThrAspMetGlnIleMetValArgLeuIleAsnLysPheAsnSerSerSerSerSerLeuGluGluLysIleAlaAlaLeuPheAspLeuGluTyrTyrValHisGlnMetAspAsnAlaGlnAspLeuLeuSerPheGlyGlyLeuGlnValValIleAsnGlyLeuAsnSerThrGluProLeuValLysGluTyrAlaAlaPheValLeuGlyAlaAlaPheSerSerAsnProLysValGlnValGluAlaIleGluGlyGlyAlaLeuGlnLysLeuLeuValIleLeuAlaThrGluGlnProLeuThrAlaLysLysLysValLeuPheAlaLeuCysSerLeuLeuArgHisPheProTyrAlaGlnArgGlnPheLeuLysLeuGlyGlyLeuGlnValLeuArgThrLeuValGlnGluLysGlyThrGluValLeuAlaValArgValValThrLeuLeuTyrAspLeuValThrGluLysMetPheAlaGluGluGluAlaGluLeuThrGlnGluMetSerProGluLysLeuGlnGlnTyrArgGlnValHisLeuLeuProGlyLeuTrpGluGlnGlyTrpCysGluIleThrAlaHisLeuLeuAlaLeuProGluHisAspAlaArgGluLysValLeuGlnThrLeuGlyValLeuLeuThrThrCysArgAspArgTyrArgGlnAspProGlnLeuGlyArgThrLeuAlaSerLeuGlnAlaGluTyrGlnValLeuAlaSerLeuGluLeuGlnAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276358" }, { "coordinates": [ { "allele": "T", "end": 158, "referenceAllele": "C", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "ENST00000503732.1:n.158C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS335966" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "ENST00000505830.5:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000426460.1:p.Arg121Ter", "hgvsWellDefined": "ENSP00000426460.1:p.Arg121Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS337517" }, { "coordinates": [ { "allele": "T", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "ENST00000507002.5:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000421890.1:p.Arg121Ter", "hgvsWellDefined": "ENSP00000421890.1:p.Arg121_Lys125del" }, "referenceSequence": "http://reg.genome.network/refseq/RS338407" }, { "coordinates": [ { "allele": "T", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "ENST00000508639.5:c.331C>T" ], "proteinEffect": { "hgvs": "ENSP00000427371.1:p.Arg111Ter", "hgvsWellDefined": "ENSP00000427371.1:p.Arg111_Pro163del" }, "referenceSequence": "http://reg.genome.network/refseq/RS339615" }, { "coordinates": [ { "allele": "T", "end": 565, "referenceAllele": "C", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "ENST00000509534.5:c.352C>T" ], "proteinEffect": { "hgvs": "ENSP00000426858.1:p.Arg118Ter", "hgvsWellDefined": "ENSP00000426858.1:p.Arg118_Arg468delinsAsnAsnLeuLysGlyLysArgLeuAspIleAsnThrAsnThrTyrThrSerGlnAspLeuLysSerAlaLeuAlaLysPheLysGluGlyAlaGluMetGluSerSerLysGluAspLysAlaArgGlnAlaGluValLysArgLeuPheArgProIleGluGluLeuLysLysAspPheAspGluLeuAsnValValIleGluThrAspMetGlnIleMetValArgLeuIleAsnLysPheAsnSerSerSerSerSerLeuGluGluLysIleAlaAlaLeuPheAspLeuGluTyrTyrValHisGlnMetAspAsnAlaGlnAspLeuLeuSerPheGlyGlyLeuGlnValValIleAsnGlyLeuAsnSerThrGluProLeuValLysGluTyrAlaAlaPheValLeuGlyAlaAlaPheSerSerAsnProLysValGlnValGluAlaIleGluGlyGlyAlaLeuGlnLysLeuLeuValIleLeuAlaThrGluGlnProLeuThrAlaLysLysLysValLeuPheAlaLeuCysSerLeuLeuArgHisPheProTyrAlaGlnArgGlnPheLeuLysLeuGlyGlyLeuGlnValLeuArgThrLeuValGlnGluLysGlyThrGluValLeuAlaValArgValValThrLeuLeuTyrAspLeuValThrGluLysMetPheAlaGluGluGluAlaGluLeuThrGlnGluMetSerProGluLysLeuGlnGlnTyrArgGlnValHisLeuLeuProGlyLeuTrpGluGlnGlyTrpCysGluIleThrAlaHisLeuLeuAlaLeuProGluHisAspAlaArgGluLysValLeuGlnThrLeuGlyValLeuLeuThrThrCysArgAspArgTyrArgGlnAspProGlnLeuGlyArgThrLeuAlaSerLeuGlnAlaGluTyrGlnValLeuAlaSerLeuGluLeuGlnAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340273" }, { "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "ENST00000513453.5:c.331C>T" ], "proteinEffect": { "hgvs": "ENSP00000424014.1:p.Arg111Ter", "hgvsWellDefined": "ENSP00000424014.1:p.Arg111Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS343194" }, { "@id": "http://reg.genome.network/allele/PA252370", "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "NM_001037633.1:c.331C>T" ], "proteinEffect": { "hgvs": "NP_001032722.1:p.Arg111Ter", "hgvsWellDefined": "NP_001032722.1:p.Arg111_Arg461delinsAsnAsnLeuLysGlyLysArgLeuAspIleAsnThrAsnThrTyrThrSerGlnAspLeuLysSerAlaLeuAlaLysPheLysGluGlyAlaGluMetGluSerSerLysGluAspLysAlaArgGlnAlaGluValLysArgLeuPheArgProIleGluGluLeuLysLysAspPheAspGluLeuAsnValValIleGluThrAspMetGlnIleMetValArgLeuIleAsnLysPheAsnSerSerSerSerSerLeuGluGluLysIleAlaAlaLeuPheAspLeuGluTyrTyrValHisGlnMetAspAsnAlaGlnAspLeuLeuSerPheGlyGlyLeuGlnValValIleAsnGlyLeuAsnSerThrGluProLeuValLysGluTyrAlaAlaPheValLeuGlyAlaAlaPheSerSerAsnProLysValGlnValGluAlaIleGluGlyGlyAlaLeuGlnLysLeuLeuValIleLeuAlaThrGluGlnProLeuThrAlaLysLysLysValLeuPheAlaLeuCysSerLeuLeuArgHisPheProTyrAlaGlnArgGlnPheLeuLysLeuGlyGlyLeuGlnValLeuArgThrLeuValGlnGluLysGlyThrGluValLeuAlaValArgValValThrLeuLeuTyrAspLeuValThrGluLysMetPheAlaGluGluGluAlaGluLeuThrGlnGluMetSerProGluLysLeuGlnGlnTyrArgGlnValHisLeuLeuProGlyLeuTrpGluGlnGlyTrpCysGluIleThrAlaHisLeuLeuAlaLeuProGluHisAspAlaArgGluLysValLeuGlnThrLeuGlyValLeuLeuThrThrCysArgAspArgTyrArgGlnAspProGlnLeuGlyArgThrLeuAlaSerLeuGlnAlaGluTyrGlnValLeuAlaSerLeuGluLeuGlnAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009286" }, { "@id": "http://reg.genome.network/allele/PA916067443", "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "NM_022464.4:c.331C>T" ], "proteinEffect": { "hgvs": "NP_071909.1:p.Arg111Ter", "hgvsWellDefined": "NP_071909.1:p.Arg111_Arg461delinsAsnAsnLeuLysGlyLysArgLeuAspIleAsnThrAsnThrTyrThrSerGlnAspLeuLysSerAlaLeuAlaLysPheLysGluGlyAlaGluMetGluSerSerLysGluAspLysAlaArgGlnAlaGluValLysArgLeuPheArgProIleGluGluLeuLysLysAspPheAspGluLeuAsnValValIleGluThrAspMetGlnIleMetValArgLeuIleAsnLysPheAsnSerSerSerSerSerLeuGluGluLysIleAlaAlaLeuPheAspLeuGluTyrTyrValHisGlnMetAspAsnAlaGlnAspLeuLeuSerPheGlyGlyLeuGlnValValIleAsnGlyLeuAsnSerThrGluProLeuValLysGluTyrAlaAlaPheValLeuGlyAlaAlaPheSerSerAsnProLysValGlnValGluAlaIleGluGlyGlyAlaLeuGlnLysLeuLeuValIleLeuAlaThrGluGlnProLeuThrAlaLysLysLysValLeuPheAlaLeuCysSerLeuLeuArgHisPheProTyrAlaGlnArgGlnPheLeuLysLeuGlyGlyLeuGlnValLeuArgThrLeuValGlnGluLysGlyThrGluValLeuAlaValArgValValThrLeuLeuTyrAspLeuValThrGluLysMetPheAlaGluGluGluAlaGluLeuThrGlnGluMetSerProGluLysLeuGlnGlnTyrArgGlnValHisLeuLeuProGlyLeuTrpGluGlnGlyTrpCysGluIleThrAlaHisLeuLeuAlaLeuProGluHisAspAlaArgGluLysValLeuGlnThrLeuGlyValLeuLeuThrThrCysArgAspArgTyrArgGlnAspProGlnLeuGlyArgThrLeuAlaSerLeuGlnAlaGluTyrGlnValLeuAlaSerLeuGluLeuGlnAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037329" }, { "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "C", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "XM_011543570.1:c.361C>T" ], "proteinEffect": { "hgvs": "XP_011541872.1:p.Arg121Ter", "hgvsWellDefined": "XP_011541872.1:p.Arg121_Arg471delinsAsnAsnLeuLysGlyLysArgLeuAspIleAsnThrAsnThrTyrThrSerGlnAspLeuLysSerAlaLeuAlaLysPheLysGluGlyAlaGluMetGluSerSerLysGluAspLysAlaArgGlnAlaGluValLysArgLeuPheArgProIleGluGluLeuLysLysAspPheAspGluLeuAsnValValIleGluThrAspMetGlnIleMetValArgLeuIleAsnLysPheAsnSerSerSerSerSerLeuGluGluLysIleAlaAlaLeuPheAspLeuGluTyrTyrValHisGlnMetAspAsnAlaGlnAspLeuLeuSerPheGlyGlyLeuGlnValValIleAsnGlyLeuAsnSerThrGluProLeuValLysGluTyrAlaAlaPheValLeuGlyAlaAlaPheSerSerAsnProLysValGlnValGluAlaIleGluGlyGlyAlaLeuGlnLysLeuLeuValIleLeuAlaThrGluGlnProLeuThrAlaLysLysLysValLeuPheAlaLeuCysSerLeuLeuArgHisPheProTyrAlaGlnArgGlnPheLeuLysLeuGlyGlyLeuGlnValLeuArgThrLeuValGlnGluLysGlyThrGluValLeuAlaValArgValValThrLeuLeuTyrAspLeuValThrGluLysMetPheAlaGluGluGluAlaGluLeuThrGlnGluMetSerProGluLysLeuGlnGlnTyrArgGlnValHisLeuLeuProGlyLeuTrpGluGlnGlyTrpCysGluIleThrAlaHisLeuLeuAlaLeuProGluHisAspAlaArgGluLysValLeuGlnThrLeuGlyValLeuLeuThrThrCysArgAspArgTyrArgGlnAspProGlnLeuGlyArgThrLeuAlaSerLeuGlnAlaGluTyrGlnValLeuAlaSerLeuGluLeuGlnAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110488" }, { "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "C", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "XM_011543570.2:c.361C>T" ], "proteinEffect": { "hgvs": "XP_011541872.1:p.Arg121Ter", "hgvsWellDefined": "XP_011541872.1:p.Arg121_Arg471delinsAsnAsnLeuLysGlyLysArgLeuAspIleAsnThrAsnThrTyrThrSerGlnAspLeuLysSerAlaLeuAlaLysPheLysGluGlyAlaGluMetGluSerSerLysGluAspLysAlaArgGlnAlaGluValLysArgLeuPheArgProIleGluGluLeuLysLysAspPheAspGluLeuAsnValValIleGluThrAspMetGlnIleMetValArgLeuIleAsnLysPheAsnSerSerSerSerSerLeuGluGluLysIleAlaAlaLeuPheAspLeuGluTyrTyrValHisGlnMetAspAsnAlaGlnAspLeuLeuSerPheGlyGlyLeuGlnValValIleAsnGlyLeuAsnSerThrGluProLeuValLysGluTyrAlaAlaPheValLeuGlyAlaAlaPheSerSerAsnProLysValGlnValGluAlaIleGluGlyGlyAlaLeuGlnLysLeuLeuValIleLeuAlaThrGluGlnProLeuThrAlaLysLysLysValLeuPheAlaLeuCysSerLeuLeuArgHisPheProTyrAlaGlnArgGlnPheLeuLysLeuGlyGlyLeuGlnValLeuArgThrLeuValGlnGluLysGlyThrGluValLeuAlaValArgValValThrLeuLeuTyrAspLeuValThrGluLysMetPheAlaGluGluGluAlaGluLeuThrGlnGluMetSerProGluLysLeuGlnGlnTyrArgGlnValHisLeuLeuProGlyLeuTrpGluGlnGlyTrpCysGluIleThrAlaHisLeuLeuAlaLeuProGluHisAspAlaArgGluLysValLeuGlnThrLeuGlyValLeuLeuThrThrCysArgAspArgTyrArgGlnAspProGlnLeuGlyArgThrLeuAlaSerLeuGlnAlaGluTyrGlnValLeuAlaSerLeuGluLeuGlnAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555282" }, { "coordinates": [ { "allele": "T", "end": 474, "referenceAllele": "C", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "XM_024446164.1:c.331C>T" ], "proteinEffect": { "hgvs": "XP_024301932.1:p.Arg111Ter", "hgvsWellDefined": "XP_024301932.1:p.Arg111_Arg461delinsAsnAsnLeuLysGlyLysArgLeuAspIleAsnThrAsnThrTyrThrSerGlnAspLeuLysSerAlaLeuAlaLysPheLysGluGlyAlaGluMetGluSerSerLysGluAspLysAlaArgGlnAlaGluValLysArgLeuPheArgProIleGluGluLeuLysLysAspPheAspGluLeuAsnValValIleGluThrAspMetGlnIleMetValArgLeuIleAsnLysPheAsnSerSerSerSerSerLeuGluGluLysIleAlaAlaLeuPheAspLeuGluTyrTyrValHisGlnMetAspAsnAlaGlnAspLeuLeuSerPheGlyGlyLeuGlnValValIleAsnGlyLeuAsnSerThrGluProLeuValLysGluTyrAlaAlaPheValLeuGlyAlaAlaPheSerSerAsnProLysValGlnValGluAlaIleGluGlyGlyAlaLeuGlnLysLeuLeuValIleLeuAlaThrGluGlnProLeuThrAlaLysLysLysValLeuPheAlaLeuCysSerLeuLeuArgHisPheProTyrAlaGlnArgGlnPheLeuLysLeuGlyGlyLeuGlnValLeuArgThrLeuValGlnGluLysGlyThrGluValLeuAlaValArgValValThrLeuLeuTyrAspLeuValThrGluLysMetPheAlaGluGluGluAlaGluLeuThrGlnGluMetSerProGluLysLeuGlnGlnTyrArgGlnValHisLeuLeuProGlyLeuTrpGluGlnGlyTrpCysGluIleThrAlaHisLeuLeuAlaLeuProGluHisAspAlaArgGluLysValLeuGlnThrLeuGlyValLeuLeuThrThrCysArgAspArgTyrArgGlnAspProGlnLeuGlyArgThrLeuAlaSerLeuGlnAlaGluTyrGlnValLeuAlaSerLeuGluLeuGlnAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579838" }, { "@id": "http://reg.genome.network/allele/PA916067443", "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "NM_022464.5:c.331C>T" ], "proteinEffect": { "hgvs": "NP_071909.1:p.Arg111Ter", "hgvsWellDefined": "NP_071909.1:p.Arg111_Arg461delinsAsnAsnLeuLysGlyLysArgLeuAspIleAsnThrAsnThrTyrThrSerGlnAspLeuLysSerAlaLeuAlaLysPheLysGluGlyAlaGluMetGluSerSerLysGluAspLysAlaArgGlnAlaGluValLysArgLeuPheArgProIleGluGluLeuLysLysAspPheAspGluLeuAsnValValIleGluThrAspMetGlnIleMetValArgLeuIleAsnLysPheAsnSerSerSerSerSerLeuGluGluLysIleAlaAlaLeuPheAspLeuGluTyrTyrValHisGlnMetAspAsnAlaGlnAspLeuLeuSerPheGlyGlyLeuGlnValValIleAsnGlyLeuAsnSerThrGluProLeuValLysGluTyrAlaAlaPheValLeuGlyAlaAlaPheSerSerAsnProLysValGlnValGluAlaIleGluGlyGlyAlaLeuGlnLysLeuLeuValIleLeuAlaThrGluGlnProLeuThrAlaLysLysLysValLeuPheAlaLeuCysSerLeuLeuArgHisPheProTyrAlaGlnArgGlnPheLeuLysLeuGlyGlyLeuGlnValLeuArgThrLeuValGlnGluLysGlyThrGluValLeuAlaValArgValValThrLeuLeuTyrAspLeuValThrGluLysMetPheAlaGluGluGluAlaGluLeuThrGlnGluMetSerProGluLysLeuGlnGlnTyrArgGlnValHisLeuLeuProGlyLeuTrpGluGlnGlyTrpCysGluIleThrAlaHisLeuLeuAlaLeuProGluHisAspAlaArgGluLysValLeuGlnThrLeuGlyValLeuLeuThrThrCysArgAspArgTyrArgGlnAspProGlnLeuGlyArgThrLeuAlaSerLeuGlnAlaGluTyrGlnValLeuAlaSerLeuGluLeuGlnAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670446", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394817.7:c.331C>T" }, "RefSeq": { "hgvs": "NM_022464.5:c.331C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378294.2:p.Arg111Ter" }, "RefSeq": { "hgvs": "NP_071909.1:p.Arg111Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA252370", "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "C", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN024624", "geneNCBI_id": 64374, "geneSymbol": "SIL1", "hgvs": [ "NM_001037633.2:c.331C>T" ], "proteinEffect": { "hgvs": "NP_001032722.1:p.Arg111Ter", "hgvsWellDefined": "NP_001032722.1:p.Arg111_Arg461delinsAsnAsnLeuLysGlyLysArgLeuAspIleAsnThrAsnThrTyrThrSerGlnAspLeuLysSerAlaLeuAlaLysPheLysGluGlyAlaGluMetGluSerSerLysGluAspLysAlaArgGlnAlaGluValLysArgLeuPheArgProIleGluGluLeuLysLysAspPheAspGluLeuAsnValValIleGluThrAspMetGlnIleMetValArgLeuIleAsnLysPheAsnSerSerSerSerSerLeuGluGluLysIleAlaAlaLeuPheAspLeuGluTyrTyrValHisGlnMetAspAsnAlaGlnAspLeuLeuSerPheGlyGlyLeuGlnValValIleAsnGlyLeuAsnSerThrGluProLeuValLysGluTyrAlaAlaPheValLeuGlyAlaAlaPheSerSerAsnProLysValGlnValGluAlaIleGluGlyGlyAlaLeuGlnLysLeuLeuValIleLeuAlaThrGluGlnProLeuThrAlaLysLysLysValLeuPheAlaLeuCysSerLeuLeuArgHisPheProTyrAlaGlnArgGlnPheLeuLysLeuGlyGlyLeuGlnValLeuArgThrLeuValGlnGluLysGlyThrGluValLeuAlaValArgValValThrLeuLeuTyrAspLeuValThrGluLysMetPheAlaGluGluGluAlaGluLeuThrGlnGluMetSerProGluLysLeuGlnGlnTyrArgGlnValHisLeuLeuProGlyLeuTrpGluGlnGlyTrpCysGluIleThrAlaHisLeuLeuAlaLeuProGluHisAspAlaArgGluLysValLeuGlnThrLeuGlyValLeuLeuThrThrCysArgAspArgTyrArgGlnAspProGlnLeuGlyArgThrLeuAlaSerLeuGlnAlaGluTyrGlnValLeuAlaSerLeuGluLeuGlnAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675860" } ], "type": "nucleotide" }