{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393759213", "communityStandardTitle": [ "NM_002693.3(POLG):c.1859G>A (p.Trp620Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89868771C>T?assembly=hg19", "id": "chr15:g.89868771C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89325540C>T?assembly=hg38", "id": "chr15:g.89325540C>T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89325540, "referenceAllele": "C", "start": 89325539 } ], "hgvs": [ "NC_000015.10:g.89325540C>T", "CM000677.2:g.89325540C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89868771, "referenceAllele": "C", "start": 89868770 } ], "hgvs": [ "NC_000015.9:g.89868771C>T", "CM000677.1:g.89868771C>T" ], 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"ENST00000636937.2:c.1859G>A" ], "proteinEffect": { "hgvs": "ENSP00000516154.1:p.Trp620Ter", "hgvsWellDefined": "ENSP00000516154.1:p.Trp620_Pro1239delinsGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906362" }, { "coordinates": [ { "allele": "A", "end": 2170, "referenceAllele": "G", "start": 2169 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.11:c.1859G>A" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Trp620Ter", "hgvsWellDefined": "ENSP00000268124.5:p.Trp620_Pro1239delinsGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743029", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.1859G>A" }, "RefSeq": { "hgvs": "NM_002693.3:c.1859G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Trp620Ter" }, "RefSeq": { "hgvs": "NP_002684.1:p.Trp620Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1460, "referenceAllele": "G", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.3:c.1460G>A" ], "proteinEffect": { "hgvs": "ENSP00000432885.2:p.Trp487Ter", "hgvsWellDefined": "ENSP00000432885.2:p.Trp487_Gly1035delinsGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrSerLysIleProSerSerTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759172" }, { "coordinates": [ { "allele": "A", "end": 2057, "referenceAllele": "G", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000635986.2:c.1859G>A" ], "proteinEffect": { "hgvs": "ENSP00000490653.2:p.Trp620Ter", "hgvsWellDefined": "ENSP00000490653.2:p.Trp620_His995delinsGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762785" }, { "coordinates": [ { "allele": "A", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636774.1:c.*426G>A" ], "proteinEffect": { "hgvs": "ENSP00000489799.1:n.*426G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763370" }, { "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "G", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637238.1:c.596G>A" ], "proteinEffect": { "hgvs": "ENSP00000490756.1:p.Trp199Ter", "hgvsWellDefined": "ENSP00000490756.1:p.Trp199_Ser233delinsGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGluProSerSerProCysThrGlySerThrValSerAsnArgGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763718" }, { "coordinates": [ { "allele": "A", "end": 931, "referenceAllele": "G", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637264.1:c.931G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763738" }, { "coordinates": [ { "allele": "A", "end": 1436, "referenceAllele": "G", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000666746.1:c.1436G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772952" }, { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "G", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000670281.1:c.179G>A" ], "proteinEffect": { "hgvs": "ENSP00000499709.1:p.Trp60Ter", "hgvsWellDefined": "ENSP00000499709.1:p.Trp60Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS773095" }, { "coordinates": [ { "allele": "A", "end": 2057, "referenceAllele": "G", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672071.1:n.2057G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773259" }, { "coordinates": [ { "allele": "A", "end": 1962, "referenceAllele": "G", "start": 1961 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672923.2:n.1962G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773544" }, { "coordinates": [ { "allele": "A", "end": 2193, "referenceAllele": "G", "start": 2192 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.9:c.1859G>A" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Trp620Ter", "hgvsWellDefined": "ENSP00000268124.5:p.Trp620_Pro1239delinsGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252051" }, { "coordinates": [ { "allele": "A", "end": 2195, "referenceAllele": "G", "start": 2194 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000442287.6:c.1859G>A" ], "proteinEffect": { "hgvs": "ENSP00000399851.2:p.Trp620Ter", "hgvsWellDefined": "ENSP00000399851.2:p.Trp620_Pro1239delinsGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296812" }, { "coordinates": [ { "allele": "A", "end": 241, "referenceAllele": "G", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000526314.2:c.241G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352202" }, { "coordinates": [ { "allele": "A", "end": 48, "referenceAllele": "G", "start": 47 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000526398.1:c.48G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352274" }, { "coordinates": [ { "allele": "A", "end": 61, "referenceAllele": "G", "start": 60 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000532584.5:n.61G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS357496" }, { "coordinates": [ { "allele": "A", "end": 2320, "referenceAllele": "G", "start": 2319 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000631044.2:c.*1242G>A" ], "proteinEffect": { "hgvs": "ENSP00000486730.1:n.*1242G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407466" }, { "@id": "http://reg.genome.network/allele/PA2825621243", "coordinates": [ { "allele": "A", "end": 2129, "referenceAllele": "G", "start": 2128 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.1:c.1859G>A" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Trp620Ter", "hgvsWellDefined": "NP_001119603.1:p.Trp620_Pro1239delinsGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011503" }, { "@id": "http://reg.genome.network/allele/PA2741893792", "coordinates": [ { "allele": "A", "end": 2141, "referenceAllele": "G", "start": 2140 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.2:c.1859G>A" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Trp620Ter", "hgvsWellDefined": "NP_002684.1:p.Trp620_Pro1239delinsGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027982" }, { "@id": "http://reg.genome.network/allele/PA2825621243", "coordinates": [ { "allele": "A", "end": 2158, "referenceAllele": "G", "start": 2157 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.2:c.1859G>A" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Trp620Ter", "hgvsWellDefined": "NP_001119603.1:p.Trp620_Pro1239delinsGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676825" }, { "@id": "http://reg.genome.network/allele/PA2741893792", "coordinates": [ { "allele": "A", "end": 2170, "referenceAllele": "G", "start": 2169 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.3:c.1859G>A" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Trp620Ter", "hgvsWellDefined": "NP_002684.1:p.Trp620_Pro1239delinsGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727303", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.1859G>A" }, "RefSeq": { "hgvs": "NM_002693.3:c.1859G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Trp620Ter" }, "RefSeq": { "hgvs": "NP_002684.1:p.Trp620Ter" } } } } ], "type": "nucleotide" }