{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA387298469", "communityStandardTitle": [ "NM_025215.6(PUS1):c.460C>T (p.Gln154Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1874578[alleleid]", "alleleId": 1874578, "preferredName": "NM_025215.6(PUS1):c.460C>T (p.Gln154Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2137450", "RCV": [ "RCV003062557", "RCV003459727" ], "variationId": 2137450 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.132423736C>T?assembly=hg19", "id": "chr12:g.132423736C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.131939191C>T?assembly=hg38", "id": "chr12:g.131939191C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2540870188", "rs": 2540870188 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-131939191-C-T?dataset=gnomad_r4", "id": "12-131939191-C-T", "variant": "12:131939191 C / T" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 131939191, "referenceAllele": "C", "start": 131939190 } ], "hgvs": [ "NC_000012.12:g.131939191C>T", "CM000674.2:g.131939191C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 132423736, "referenceAllele": "C", "start": 132423735 } ], "hgvs": [ "NC_000012.11:g.132423736C>T", "CM000674.1:g.132423736C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 130989689, "referenceAllele": "C", "start": 130989688 } ], "hgvs": [ "NC_000012.10:g.130989689C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 14992, "referenceAllele": "C", "start": 14991 } ], "hgvs": [ "NG_013039.1:g.14992C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002683" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "ENST00000376649.8:c.460C>T" ], "proteinEffect": { "hgvs": "ENSP00000365837.3:p.Gln154Ter", "hgvsWellDefined": "ENSP00000365837.3:p.Gln154_Asp427delinsValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751795", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376649.8:c.460C>T" }, "RefSeq": { "hgvs": "NM_025215.6:c.460C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365837.3:p.Gln154Ter" }, "RefSeq": { "hgvs": "NP_079491.2:p.Gln154Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "ENST00000322060.9:c.376C>T" ], "proteinEffect": { "hgvs": "ENSP00000324726.5:p.Gln126Ter", "hgvsWellDefined": "ENSP00000324726.5:p.Gln126_Lys384del" }, "referenceSequence": "http://reg.genome.network/refseq/RS258029" }, { "coordinates": [ { "allele": "T", "end": 960, "referenceAllele": "C", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "ENST00000376649.7:c.460C>T" ], "proteinEffect": { "hgvs": "ENSP00000365837.3:p.Gln154Ter", "hgvsWellDefined": "ENSP00000365837.3:p.Gln154_Asp427delinsValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271254" }, { "coordinates": [ { "allele": "T", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "ENST00000443358.6:c.376C>T" ], "proteinEffect": { "hgvs": "ENSP00000392451.2:p.Gln126Ter", "hgvsWellDefined": "ENSP00000392451.2:p.Gln126_Asp399delinsValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS297303" }, { "coordinates": [ { "allele": "T", "end": 519, "endIntronDirection": "-", "endIntronOffset": 4347, "referenceAllele": "C", "start": 519, "startIntronDirection": "-", "startIntronOffset": 4348 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "ENST00000535067.5:c.358-4348C>T" ], "proteinEffect": { "hgvs": "ENSP00000443969.1:n.358-4348C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS359520" }, { "coordinates": [ { "allele": "T", "end": 511, "endIntronDirection": "-", "endIntronOffset": 2100, "referenceAllele": "C", "start": 511, "startIntronDirection": "-", "startIntronOffset": 2101 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "ENST00000537484.1:c.470-2101C>T" ], "proteinEffect": { "hgvs": "ENSP00000440179.1:n.470-2101C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS360799" }, { "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "ENST00000538037.5:c.376C>T" ], "proteinEffect": { "hgvs": "ENSP00000440326.2:p.Gln126Ter", "hgvsWellDefined": "ENSP00000440326.2:p.Gln126Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS361094" }, { "coordinates": [ { "allele": "T", "end": 1054, "referenceAllele": "C", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "ENST00000542167.2:c.301C>T" ], "proteinEffect": { "hgvs": "ENSP00000438948.1:p.Gln101Ter", "hgvsWellDefined": "ENSP00000438948.1:p.Gln101_Asp374delinsValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363311" }, { "@id": "http://reg.genome.network/allele/PA2825242383", "coordinates": [ { "allele": "T", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "NM_001002019.2:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001002019.1:p.Gln126Ter", "hgvsWellDefined": "NP_001002019.1:p.Gln126_Asp399delinsValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007219" }, { "@id": "http://reg.genome.network/allele/PA2825243112", "coordinates": [ { "allele": "T", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "NM_001002020.2:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001002020.1:p.Gln126Ter", "hgvsWellDefined": "NP_001002020.1:p.Gln126_Asp399delinsValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007220" }, { "@id": "http://reg.genome.network/allele/PA2580470706", "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "NM_025215.5:c.460C>T" ], "proteinEffect": { "hgvs": "NP_079491.2:p.Gln154Ter", "hgvsWellDefined": "NP_079491.2:p.Gln154_Asp427delinsValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038277" }, { "coordinates": [ { "allele": "T", "end": 175, "referenceAllele": "C", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "XM_011538768.1:c.61C>T" ], "proteinEffect": { "hgvs": "XP_011537070.1:p.Gln21Ter", "hgvsWellDefined": "XP_011537070.1:p.Gln21_Asp294delinsValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105722" }, { "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "C", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "XM_011538768.3:c.61C>T" ], "proteinEffect": { "hgvs": "XP_011537070.1:p.Gln21Ter", "hgvsWellDefined": "XP_011537070.1:p.Gln21_Asp294delinsValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553410" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "XR_001748872.1:n.915C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596811" }, { "@id": "http://reg.genome.network/allele/PA2825242383", "coordinates": [ { "allele": "T", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "NM_001002019.3:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001002019.1:p.Gln126Ter", "hgvsWellDefined": "NP_001002019.1:p.Gln126_Asp399delinsValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675057" }, { "@id": "http://reg.genome.network/allele/PA2825243112", "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "NM_001002020.3:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001002020.1:p.Gln126Ter", "hgvsWellDefined": "NP_001002020.1:p.Gln126_Asp399delinsValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675058" }, { "@id": "http://reg.genome.network/allele/PA2580470706", "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "NM_025215.6:c.460C>T" ], "proteinEffect": { "hgvs": "NP_079491.2:p.Gln154Ter", "hgvsWellDefined": "NP_079491.2:p.Gln154_Asp427delinsValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698838", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376649.8:c.460C>T" }, "RefSeq": { "hgvs": "NM_025215.6:c.460C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365837.3:p.Gln154Ter" }, "RefSeq": { "hgvs": "NP_079491.2:p.Gln154Ter" } } } } ], "type": "nucleotide" }