{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393762039", "communityStandardTitle": [ "NM_002693.3(POLG):c.1360G>T (p.Glu454Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835108[alleleid]", "alleleId": 2835108, "preferredName": "NM_002693.3(POLG):c.1360G>T (p.Glu454Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2677963", "RCV": [ "RCV003471720" ], "variationId": 2677963 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89870471C>A?assembly=hg19", "id": "chr15:g.89870471C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89327240C>A?assembly=hg38", "id": "chr15:g.89327240C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2509256107", "rs": 2509256107 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 89327240, "referenceAllele": "C", "start": 89327239 } ], "hgvs": [ "NC_000015.10:g.89327240C>A", "CM000677.2:g.89327240C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 89870471, "referenceAllele": "C", "start": 89870470 } ], "hgvs": [ "NC_000015.9:g.89870471C>A", "CM000677.1:g.89870471C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 87671475, "referenceAllele": "C", "start": 87671474 } ], "hgvs": [ "NC_000015.8:g.87671475C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 12556, "referenceAllele": "G", "start": 12555 } ], "hgvs": [ "NG_008218.1:g.12556G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000956" }, { "coordinates": [ { "allele": "T", "end": 12556, "referenceAllele": "G", "start": 12555 } ], "hgvs": [ "NG_008218.2:g.12556G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616096" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2304, "referenceAllele": "G", "start": 2303 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636937.2:c.1360G>T" ], "proteinEffect": { "hgvs": "ENSP00000516154.1:p.Glu454Ter", "hgvsWellDefined": "ENSP00000516154.1:p.Glu454_Pro1239delinsLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906362" }, { "coordinates": [ { "allele": "T", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.11:c.1360G>T" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Glu454Ter", "hgvsWellDefined": "ENSP00000268124.5:p.Glu454_Pro1239delinsLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743029", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.1360G>T" }, "RefSeq": { "hgvs": "NM_002693.3:c.1360G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Glu454Ter" }, "RefSeq": { "hgvs": "NP_002684.1:p.Glu454Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 961, "referenceAllele": "G", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.3:c.961G>T" ], "proteinEffect": { "hgvs": "ENSP00000432885.2:p.Glu321Ter", "hgvsWellDefined": "ENSP00000432885.2:p.Glu321_Gly1035delinsLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrSerLysIleProSerSerTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759172" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "G", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000635986.2:c.1360G>T" ], "proteinEffect": { "hgvs": "ENSP00000490653.2:p.Glu454Ter", "hgvsWellDefined": "ENSP00000490653.2:p.Glu454_His995delinsLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762785" }, { "coordinates": [ { "allele": "T", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636774.1:c.1360G>T" ], "proteinEffect": { "hgvs": "ENSP00000489799.1:p.Glu454Ter", "hgvsWellDefined": "ENSP00000489799.1:p.Glu454_Leu482delinsLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluSerGlyLeuAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763370" }, { "coordinates": [ { "allele": "T", "end": 97, "referenceAllele": "G", "start": 96 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637238.1:c.97G>T" ], "proteinEffect": { "hgvs": "ENSP00000490756.1:p.Glu33Ter", "hgvsWellDefined": "ENSP00000490756.1:p.Glu33_Ser233delinsLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGluProSerSerProCysThrGlySerThrValSerAsnArgGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763718" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "G", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637264.1:c.432G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763738" }, { "coordinates": [ { "allele": "T", "end": 937, "referenceAllele": "G", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000666746.1:c.937G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772952" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "G", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672071.1:n.1558G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773259" }, { "coordinates": [ { "allele": "T", "end": 1463, "referenceAllele": "G", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672923.2:n.1463G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773544" }, { "coordinates": [ { "allele": "T", "end": 1694, "referenceAllele": "G", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.9:c.1360G>T" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Glu454Ter", "hgvsWellDefined": "ENSP00000268124.5:p.Glu454_Pro1239delinsLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252051" }, { "coordinates": [ { "allele": "T", "end": 1696, "referenceAllele": "G", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000442287.6:c.1360G>T" ], "proteinEffect": { "hgvs": "ENSP00000399851.2:p.Glu454Ter", "hgvsWellDefined": "ENSP00000399851.2:p.Glu454_Pro1239delinsLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296812" }, { "coordinates": [ { "allele": "T", "end": 218, "referenceAllele": "G", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000532363.2:n.218G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS357306" }, { "coordinates": [ { "allele": "T", "end": 1821, "referenceAllele": "G", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000631044.2:c.*743G>T" ], "proteinEffect": { "hgvs": "ENSP00000486730.1:n.*743G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS407466" }, { "@id": "http://reg.genome.network/allele/PA2825620950", "coordinates": [ { "allele": "T", "end": 1630, "referenceAllele": "G", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.1:c.1360G>T" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Glu454Ter", "hgvsWellDefined": "NP_001119603.1:p.Glu454_Pro1239delinsLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011503" }, { "@id": "http://reg.genome.network/allele/PA2741893676", "coordinates": [ { "allele": "T", "end": 1642, "referenceAllele": "G", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.2:c.1360G>T" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Glu454Ter", "hgvsWellDefined": "NP_002684.1:p.Glu454_Pro1239delinsLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027982" }, { "@id": "http://reg.genome.network/allele/PA2825620950", "coordinates": [ { "allele": "T", "end": 1659, "referenceAllele": "G", "start": 1658 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.2:c.1360G>T" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Glu454Ter", "hgvsWellDefined": "NP_001119603.1:p.Glu454_Pro1239delinsLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676825" }, { "@id": "http://reg.genome.network/allele/PA2741893676", "coordinates": [ { "allele": "T", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.3:c.1360G>T" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Glu454Ter", "hgvsWellDefined": "NP_002684.1:p.Glu454_Pro1239delinsLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727303", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.1360G>T" }, "RefSeq": { "hgvs": "NM_002693.3:c.1360G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Glu454Ter" }, "RefSeq": { "hgvs": "NP_002684.1:p.Glu454Ter" } } } } ], "type": "nucleotide" }