{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA380694885", "communityStandardTitle": [ "NM_000062.3(SERPING1):c.229A>T (p.Lys77Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1289796[alleleid]", "alleleId": 1289796, "preferredName": "NM_000062.3(SERPING1):c.229A>T (p.Lys77Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1299743", "RCV": [ "RCV002221668" ], "variationId": 1299743 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.57367529A>T?assembly=hg19", "id": "chr11:g.57367529A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.57600056A>T?assembly=hg38", "id": "chr11:g.57600056A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2135308228", "rs": 2135308228 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 57600056, "referenceAllele": "A", "start": 57600055 } ], "hgvs": [ "NC_000011.10:g.57600056A>T", "CM000673.2:g.57600056A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 57367529, "referenceAllele": "A", "start": 57367528 } ], "hgvs": [ "NC_000011.9:g.57367529A>T", "CM000673.1:g.57367529A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 57124105, "referenceAllele": "A", "start": 57124104 } ], "hgvs": [ "NC_000011.8:g.57124105A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 7503, "referenceAllele": "A", "start": 7502 } ], "hgvs": [ "NG_009625.1:g.7503A>T", "LRG_105:g.7503A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001617" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 289, "referenceAllele": "A", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000278407.9:c.229A>T" ], "proteinEffect": { "hgvs": "ENSP00000278407.4:p.Lys77Ter", "hgvsWellDefined": "ENSP00000278407.4:p.Lys77_Ala500delinsIleThrAlaAsnThrThrAspGluProThrThrGlnProThrThrGluProThrThrGlnProThrIleGlnProThrGlnProThrThrGlnLeuProThrAspSerProThrGlnProThrThrGlySerPheCysProGlyProValThrLeuCysSerAspLeuGluSerHisSerThrGluAlaValLeuGlyAspAlaLeuValAspPheSerLeuLysLeuTyrHisAlaPheSerAlaMetLysLysValGluThrAsnMetAlaPheSerProPheSerIleAlaSerLeuLeuThrGlnValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743481", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000278407.9:c.229A>T" }, "RefSeq": { "hgvs": "NM_000062.3:c.229A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000278407.4:p.Lys77Ter" }, "RefSeq": { "hgvs": "NP_000053.2:p.Lys77Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 100, "endIntronDirection": "+", "endIntronOffset": 1728, "referenceAllele": "A", "start": 100, "startIntronDirection": "+", "startIntronOffset": 1727 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000528996.2:c.58+1728A>T" ], "proteinEffect": { "hgvs": "ENSP00000431226.2:n.58+1728A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS759112" }, { "coordinates": [ { "allele": "T", "end": 99, "endIntronDirection": "+", "endIntronOffset": 1735, "referenceAllele": "A", "start": 99, "startIntronDirection": "+", "startIntronOffset": 1734 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000531605.2:c.51+1735A>T" ], "proteinEffect": { "hgvs": "ENSP00000503752.1:n.51+1735A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS759244" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "A", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000619430.2:c.229A>T" ], "proteinEffect": { "hgvs": "ENSP00000478572.2:p.Lys77Ter", "hgvsWellDefined": "ENSP00000478572.2:p.Lys77_Ala432delinsIleThrAlaAsnThrThrAspGluProThrThrGlnProThrThrGluProThrThrGlnProThrIleGlnProThrGlnProThrThrGlnLeuProThrAspSerProThrGlnProThrThrGlySerPheCysProGlyProValThrLeuCysSerAspLeuGluSerHisSerThrGluAlaValLeuGlyAspAlaLeuValAspPheSerLeuLysLeuTyrHisAlaPheSerAlaMetLysLysValGluThrAsnMetAlaPheSerProPheSerIleAlaSerLeuLeuThrGlnValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762229" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "A", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000676670.1:c.229A>T" ], "proteinEffect": { "hgvs": "ENSP00000504807.1:p.Lys77Ter", "hgvsWellDefined": "ENSP00000504807.1:p.Lys77_Ala500delinsIleThrAlaAsnThrThrAspGluProThrThrGlnProThrThrGluProThrThrGlnProThrIleGlnProThrGlnProThrThrGlnLeuProThrAspSerProThrGlnProThrThrGlySerPheCysProGlyProValThrLeuCysSerAspLeuGluSerHisSerThrGluAlaValLeuGlyAspAlaLeuValAspPheSerLeuLysLeuTyrHisAlaPheSerAlaMetLysLysValGluThrAsnMetAlaPheSerProPheSerIleAlaSerLeuLeuThrGlnValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776346" }, { "coordinates": [ { "allele": "T", "end": 1311, "referenceAllele": "A", "start": 1310 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000676741.1:n.1311A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776415" }, { "coordinates": [ { "allele": "T", "end": 216, "referenceAllele": "A", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000677275.1:n.216A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776938" }, { "coordinates": [ { "allele": "T", "end": 288, "referenceAllele": "A", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000677624.1:c.229A>T" ], "proteinEffect": { "hgvs": "ENSP00000503979.1:p.Lys77Ter", "hgvsWellDefined": "ENSP00000503979.1:p.Lys77_Lys254delinsIleThrAlaAsnThrThrAspGluProThrThrGlnProThrThrGluProThrThrGlnProThrIleGlnProThrGlnProThrThrGlnLeuProThrAspSerProThrGlnProThrThrGlySerPheCysProGlyProValThrLeuCysSerAspLeuGluSerHisSerThrGluAlaValLeuGlyAspAlaLeuValAspPheSerLeuLysLeuTyrHisAlaPheSerAlaMetLysLysValGluThrAsnMetAlaPheSerProPheSerIleAlaSerLeuLeuThrGlnValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProGluSerArgSerValAlaGlnAlaGlyMetGlnTrpHisHisLeuSerSerLeuGlnProProSerProArgPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777282" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "A", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000677625.1:c.229A>T" ], "proteinEffect": { "hgvs": "ENSP00000502857.1:p.Lys77Ter", "hgvsWellDefined": "ENSP00000502857.1:p.Lys77_Ala482delinsIleThrAlaAsnThrThrAspGluProThrThrGlnProThrThrGluProThrThrGlnProThrIleGlnProThrGlnProThrThrGlnLeuProThrAspSerProThrGlnProThrThrGlySerPheCysProGlyProValThrLeuCysSerAspLeuGluSerHisSerThrGluAlaValLeuGlyAspAlaLeuValAspPheSerLeuLysLeuTyrHisAlaPheSerAlaMetLysLysValGluThrAsnMetAlaPheSerProPheSerIleAlaSerLeuLeuThrGlnValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777283" }, { "coordinates": [ { "allele": "T", "end": 288, "referenceAllele": "A", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000677856.1:n.288A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS777508" }, { "coordinates": [ { "allele": "T", "end": 288, "referenceAllele": "A", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000677915.1:c.229A>T" ], "proteinEffect": { "hgvs": "ENSP00000503118.1:p.Lys77Ter", "hgvsWellDefined": "ENSP00000503118.1:p.Lys77_Ser252delinsIleThrAlaAsnThrThrAspGluProThrThrGlnProThrThrGluProThrThrGlnProThrIleGlnProThrGlnProThrThrGlnLeuProThrAspSerProThrGlnProThrThrGlySerPheCysProGlyProValThrLeuCysSerAspLeuGluSerHisSerThrGluAlaValLeuGlyAspAlaLeuValAspPheSerLeuLysLeuTyrHisAlaPheSerAlaMetLysLysValGluThrAsnMetAlaPheSerProPheSerIleAlaSerLeuLeuThrGlnValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProGlyGlyAlaAlaAlaAlaLeuProGlnSerGluPheGlyAspProGlyThrProGluProGluThrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777567" }, { "coordinates": [ { "allele": "T", "end": 128, "endIntronDirection": "+", "endIntronOffset": 1735, "referenceAllele": "A", "start": 128, "startIntronDirection": "+", "startIntronOffset": 1734 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000678533.1:c.51+1735A>T" ], "proteinEffect": { "hgvs": "ENSP00000503873.1:n.51+1735A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778174" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "A", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000678592.1:c.229A>T" ], "proteinEffect": { "hgvs": "ENSP00000504424.1:p.Lys77Ter", "hgvsWellDefined": "ENSP00000504424.1:p.Lys77_Ile382delinsIleThrAlaAsnThrThrAspGluProThrThrGlnProThrThrGluProThrThrGlnProThrIleGlnProThrGlnProThrThrGlnLeuProThrAspSerProThrGlnProThrThrGlySerPheCysProGlyProValThrLeuCysSerAspLeuGluSerHisSerThrGluAlaValLeuGlyAspAlaLeuValAspPheSerLeuLysLeuTyrHisAlaPheSerAlaMetLysLysValGluThrAsnMetAlaPheSerProPheSerIleAlaSerLeuLeuThrGlnValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysProTrpProArgGlnThrLeuTyrIleLeuGlyTrpLysGlnAspSerGlnValSerSerCysIleSerThrIleLeuAsnGlyLysMetTrpGlySerCysSerSerProThrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778233" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "A", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000278407.8:c.229A>T" ], "proteinEffect": { "hgvs": "ENSP00000278407.4:p.Lys77Ter", "hgvsWellDefined": "ENSP00000278407.4:p.Lys77_Ala500delinsIleThrAlaAsnThrThrAspGluProThrThrGlnProThrThrGluProThrThrGlnProThrIleGlnProThrGlnProThrThrGlnLeuProThrAspSerProThrGlnProThrThrGlySerPheCysProGlyProValThrLeuCysSerAspLeuGluSerHisSerThrGluAlaValLeuGlyAspAlaLeuValAspPheSerLeuLysLeuTyrHisAlaPheSerAlaMetLysLysValGluThrAsnMetAlaPheSerProPheSerIleAlaSerLeuLeuThrGlnValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252796" }, { "coordinates": [ { "allele": "T", "end": 291, "referenceAllele": "A", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000340687.10:c.229A>T" ], "proteinEffect": { "hgvs": "ENSP00000341861.6:p.Lys77Ter", "hgvsWellDefined": "ENSP00000341861.6:p.Lys77_Ala463delinsIleThrAlaAsnThrThrAspGluProThrThrGlnProThrThrGluProThrThrGlnProThrIleGlnProThrGlnProThrThrGlnLeuProThrAspSerProThrGlnProThrThrGlySerPheCysProGlyProValThrLeuCysSerAspLeuGluSerHisSerThrGluAlaValLeuGlyAspAlaLeuValAspPheSerLeuLysLeuTyrHisAlaPheSerAlaMetLysLysValGluThrAsnMetAlaPheSerProPheSerIleAlaSerLeuLeuThrGlnValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS271986" }, { "coordinates": [ { "allele": "T", "end": 211, "referenceAllele": "A", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000378324.6:c.73A>T" ], "proteinEffect": { "hgvs": "ENSP00000367575.2:p.Lys25Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS271987" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "A", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000403558.1:c.331A>T" ], "proteinEffect": { "hgvs": "ENSP00000384420.1:p.Lys111Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS279835" }, { "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "A", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000405496.5:c.229A>T" ], "proteinEffect": { "hgvs": "ENSP00000384561.1:p.Lys77Ter", "hgvsWellDefined": "ENSP00000384561.1:p.Lys77Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS280368" }, { "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "A", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000457869.1:c.331A>T" ], "proteinEffect": { "hgvs": "ENSP00000399746.1:p.Lys111Ter", "hgvsWellDefined": "ENSP00000399746.1:p.Lys111Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS304147" }, { "coordinates": [ { "allele": "T", "end": 51, "endIntronDirection": "+", "endIntronOffset": 1735, "referenceAllele": "A", "start": 51, "startIntronDirection": "+", "startIntronOffset": 1734 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000531133.5:c.51+1735A>T" ], "proteinEffect": { "hgvs": "ENSP00000435431.1:n.51+1735A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS356278" }, { "coordinates": [ { "allele": "T", "end": 89, "endIntronDirection": "+", "endIntronOffset": 1735, "referenceAllele": "A", "start": 89, "startIntronDirection": "+", "startIntronOffset": 1734 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000531797.5:c.51+1735A>T" ], "proteinEffect": { "hgvs": "ENSP00000432554.1:n.51+1735A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS356831" }, { "coordinates": [ { "allele": "T", "end": 229, "referenceAllele": "A", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "ENST00000619430.1:c.229A>T" ], "proteinEffect": { "hgvs": "ENSP00000478572.1:p.Lys77Ter", "hgvsWellDefined": "ENSP00000478572.1:p.Lys77_Leu133delinsIleThrAlaAsnThrThrAspGluProThrThrGlnProThrThrGluProThrThrGlnProThrIleGlnProThrGlnProThrThrGlnLeuProThrAspSerProThrGlnProGlyTyrAlaLeuAsnHisGlyGluIleGlyIleLeuArgPhePheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404380" }, { "@id": "http://reg.genome.network/allele/PA2825029204", "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "A", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "NM_000062.2:c.229A>T", "LRG_105t1:c.229A>T" ], "proteinEffect": { "hgvs": "NP_000053.2:p.Lys77Ter", "hgvsWellDefined": "NP_000053.2:p.Lys77_Ala500delinsIleThrAlaAsnThrThrAspGluProThrThrGlnProThrThrGluProThrThrGlnProThrIleGlnProThrGlnProThrThrGlnLeuProThrAspSerProThrGlnProThrThrGlySerPheCysProGlyProValThrLeuCysSerAspLeuGluSerHisSerThrGluAlaValLeuGlyAspAlaLeuValAspPheSerLeuLysLeuTyrHisAlaPheSerAlaMetLysLysValGluThrAsnMetAlaPheSerProPheSerIleAlaSerLeuLeuThrGlnValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006126" }, { "@id": "http://reg.genome.network/allele/PA2573178271", "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "A", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "NM_001032295.1:c.229A>T" ], "proteinEffect": { "hgvs": "NP_001027466.1:p.Lys77Ter", "hgvsWellDefined": "NP_001027466.1:p.Lys77_Ala500delinsIleThrAlaAsnThrThrAspGluProThrThrGlnProThrThrGluProThrThrGlnProThrIleGlnProThrGlnProThrThrGlnLeuProThrAspSerProThrGlnProThrThrGlySerPheCysProGlyProValThrLeuCysSerAspLeuGluSerHisSerThrGluAlaValLeuGlyAspAlaLeuValAspPheSerLeuLysLeuTyrHisAlaPheSerAlaMetLysLysValGluThrAsnMetAlaPheSerProPheSerIleAlaSerLeuLeuThrGlnValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009065" }, { "@id": "http://reg.genome.network/allele/PA2825029204", "coordinates": [ { "allele": "T", "end": 289, "referenceAllele": "A", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "NM_000062.3:c.229A>T" ], "proteinEffect": { "hgvs": "NP_000053.2:p.Lys77Ter", "hgvsWellDefined": "NP_000053.2:p.Lys77_Ala500delinsIleThrAlaAsnThrThrAspGluProThrThrGlnProThrThrGluProThrThrGlnProThrIleGlnProThrGlnProThrThrGlnLeuProThrAspSerProThrGlnProThrThrGlySerPheCysProGlyProValThrLeuCysSerAspLeuGluSerHisSerThrGluAlaValLeuGlyAspAlaLeuValAspPheSerLeuLysLeuTyrHisAlaPheSerAlaMetLysLysValGluThrAsnMetAlaPheSerProPheSerIleAlaSerLeuLeuThrGlnValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674682", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000278407.9:c.229A>T" }, "RefSeq": { "hgvs": "NM_000062.3:c.229A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000278407.4:p.Lys77Ter" }, "RefSeq": { "hgvs": "NP_000053.2:p.Lys77Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573178271", "coordinates": [ { "allele": "T", "end": 289, "referenceAllele": "A", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN001228", "geneNCBI_id": 710, "geneSymbol": "SERPING1", "hgvs": [ "NM_001032295.2:c.229A>T" ], "proteinEffect": { "hgvs": "NP_001027466.1:p.Lys77Ter", "hgvsWellDefined": "NP_001027466.1:p.Lys77_Ala500delinsIleThrAlaAsnThrThrAspGluProThrThrGlnProThrThrGluProThrThrGlnProThrIleGlnProThrGlnProThrThrGlnLeuProThrAspSerProThrGlnProThrThrGlySerPheCysProGlyProValThrLeuCysSerAspLeuGluSerHisSerThrGluAlaValLeuGlyAspAlaLeuValAspPheSerLeuLysLeuTyrHisAlaPheSerAlaMetLysLysValGluThrAsnMetAlaPheSerProPheSerIleAlaSerLeuLeuThrGlnValLeuLeuGlyAlaGlyGluAsnThrLysThrAsnLeuGluSerIleLeuSerTyrProLysAspPheThrCysValHisGlnAlaLeuLysGlyPheThrThrLysGlyValThrSerValSerGlnIlePheHisSerProAspLeuAlaIleArgAspThrPheValAsnAlaSerArgThrLeuTyrSerSerSerProArgValLeuSerAsnAsnSerAspAlaAsnLeuGluLeuIleAsnThrTrpValAlaLysAsnThrAsnAsnLysIleSerArgLeuLeuAspSerLeuProSerAspThrArgLeuValLeuLeuAsnAlaIleTyrLeuSerAlaLysTrpLysThrThrPheAspProLysLysThrArgMetGluProPheHisPheLysAsnSerValIleLysValProMetMetAsnSerLysLysTyrProValAlaHisPheIleAspGlnThrLeuLysAlaLysValGlyGlnLeuGlnLeuSerHisAsnLeuSerLeuValIleLeuValProGlnAsnLeuLysHisArgLeuGluAspMetGluGlnAlaLeuSerProSerValPheLysAlaIleMetGluLysLeuGluMetSerLysPheGlnProThrLeuLeuThrLeuProArgIleLysValThrThrSerGlnAspMetLeuSerIleMetGluLysLeuGluPhePheAspPheSerTyrAspLeuAsnLeuCysGlyLeuThrGluAspProAspLeuGlnValSerAlaMetGlnHisGlnThrValLeuGluLeuThrGluThrGlyValGluAlaAlaAlaAlaSerAlaIleSerValAlaArgThrLeuLeuValPheGluValGlnGlnProPheLeuPheValLeuTrpAspGlnGlnHisLysPheProValPheMetGlyArgValTyrAspProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675763" } ], "type": "nucleotide" }