{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393759510", "communityStandardTitle": [ "NM_002693.3(POLG):c.1715G>A (p.Trp572Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89868915C>T?assembly=hg19", "id": "chr15:g.89868915C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89325684C>T?assembly=hg38", "id": "chr15:g.89325684C>T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89325684-C-T?dataset=gnomad_r4", "id": "15-89325684-C-T", "variant": "15:89325684 C / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89325684, "referenceAllele": "C", "start": 89325683 } ], "hgvs": [ "NC_000015.10:g.89325684C>T", "CM000677.2:g.89325684C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89868915, "referenceAllele": "C", "start": 89868914 } ], "hgvs": [ "NC_000015.9:g.89868915C>T", "CM000677.1:g.89868915C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 87669919, "referenceAllele": "C", "start": 87669918 } ], "hgvs": [ "NC_000015.8:g.87669919C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 14112, "referenceAllele": "G", "start": 14111 } ], "hgvs": [ "NG_008218.1:g.14112G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000956" }, { "coordinates": [ { "allele": "A", "end": 14112, "referenceAllele": "G", "start": 14111 } ], "hgvs": [ "NG_008218.2:g.14112G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616096" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2659, "referenceAllele": "G", "start": 2658 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636937.2:c.1715G>A" ], "proteinEffect": { "hgvs": "ENSP00000516154.1:p.Trp572Ter", "hgvsWellDefined": "ENSP00000516154.1:p.Trp572_Pro1239delinsTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906362" }, { "coordinates": [ { "allele": "A", "end": 2026, "referenceAllele": "G", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.11:c.1715G>A" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Trp572Ter", "hgvsWellDefined": "ENSP00000268124.5:p.Trp572_Pro1239delinsTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743029", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.1715G>A" }, "RefSeq": { "hgvs": "NM_002693.3:c.1715G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Trp572Ter" }, "RefSeq": { "hgvs": "NP_002684.1:p.Trp572Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1316, "referenceAllele": "G", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.3:c.1316G>A" ], "proteinEffect": { "hgvs": "ENSP00000432885.2:p.Trp439Ter", "hgvsWellDefined": "ENSP00000432885.2:p.Trp439_Gly1035delinsTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrSerLysIleProSerSerTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759172" }, { "coordinates": [ { "allele": "A", "end": 1913, "referenceAllele": "G", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000635986.2:c.1715G>A" ], "proteinEffect": { "hgvs": "ENSP00000490653.2:p.Trp572Ter", "hgvsWellDefined": "ENSP00000490653.2:p.Trp572_His995delinsTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762785" }, { "coordinates": [ { "allele": "A", "end": 2042, "referenceAllele": "G", "start": 2041 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636774.1:c.*282G>A" ], "proteinEffect": { "hgvs": "ENSP00000489799.1:n.*282G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763370" }, { "coordinates": [ { "allele": "A", "end": 452, "referenceAllele": "G", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637238.1:c.452G>A" ], "proteinEffect": { "hgvs": "ENSP00000490756.1:p.Trp151Ter", "hgvsWellDefined": "ENSP00000490756.1:p.Trp151_Ser233delinsTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGluProSerSerProCysThrGlySerThrValSerAsnArgGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763718" }, { "coordinates": [ { "allele": "A", "end": 787, "referenceAllele": "G", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637264.1:c.787G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763738" }, { "coordinates": [ { "allele": "A", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000666746.1:c.1292G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772952" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "G", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000670281.1:c.35G>A" ], "proteinEffect": { "hgvs": "ENSP00000499709.1:p.Trp12Ter", "hgvsWellDefined": "ENSP00000499709.1:p.Trp12Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS773095" }, { "coordinates": [ { "allele": "A", "end": 1913, "referenceAllele": "G", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672071.1:n.1913G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773259" }, { "coordinates": [ { "allele": "A", "end": 1818, "referenceAllele": "G", "start": 1817 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672923.2:n.1818G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773544" }, { "coordinates": [ { "allele": "A", "end": 2049, "referenceAllele": "G", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.9:c.1715G>A" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Trp572Ter", "hgvsWellDefined": "ENSP00000268124.5:p.Trp572_Pro1239delinsTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252051" }, { "coordinates": [ { "allele": "A", "end": 2051, "referenceAllele": "G", "start": 2050 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000442287.6:c.1715G>A" ], "proteinEffect": { "hgvs": "ENSP00000399851.2:p.Trp572Ter", "hgvsWellDefined": "ENSP00000399851.2:p.Trp572_Pro1239delinsTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296812" }, { "coordinates": [ { "allele": "A", "end": 97, "referenceAllele": "G", "start": 96 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000526314.2:c.97G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352202" }, { "coordinates": [ { "allele": "A", "end": 2176, "referenceAllele": "G", "start": 2175 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000631044.2:c.*1098G>A" ], "proteinEffect": { "hgvs": "ENSP00000486730.1:n.*1098G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407466" }, { "@id": "http://reg.genome.network/allele/PA2825621151", "coordinates": [ { "allele": "A", "end": 1985, "referenceAllele": "G", "start": 1984 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.1:c.1715G>A" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Trp572Ter", "hgvsWellDefined": "NP_001119603.1:p.Trp572_Pro1239delinsTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011503" }, { "@id": "http://reg.genome.network/allele/PA316843", "coordinates": [ { "allele": "A", "end": 1997, "referenceAllele": "G", "start": 1996 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.2:c.1715G>A" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Trp572Ter", "hgvsWellDefined": "NP_002684.1:p.Trp572_Pro1239delinsTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027982" }, { "@id": "http://reg.genome.network/allele/PA2825621151", "coordinates": [ { "allele": "A", "end": 2014, "referenceAllele": "G", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.2:c.1715G>A" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Trp572Ter", "hgvsWellDefined": "NP_001119603.1:p.Trp572_Pro1239delinsTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676825" }, { "@id": "http://reg.genome.network/allele/PA316843", "coordinates": [ { "allele": "A", "end": 2026, "referenceAllele": "G", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.3:c.1715G>A" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Trp572Ter", "hgvsWellDefined": "NP_002684.1:p.Trp572_Pro1239delinsTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727303", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.1715G>A" }, "RefSeq": { "hgvs": "NM_002693.3:c.1715G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Trp572Ter" }, "RefSeq": { "hgvs": "NP_002684.1:p.Trp572Ter" } } } } ], "type": "nucleotide" }