{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393767397", "communityStandardTitle": [ "NM_002693.3(POLG):c.660G>A (p.Trp220Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=643617[alleleid]", "alleleId": 643617, "preferredName": "NM_002693.3(POLG):c.660G>A (p.Trp220Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/648373", "RCV": [ "RCV000803087" ], "variationId": 648373 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89873507C>T?assembly=hg19", "id": "chr15:g.89873507C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89330276C>T?assembly=hg38", "id": "chr15:g.89330276C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1596360430", "rs": 1596360430 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89330276, "referenceAllele": "C", "start": 89330275 } ], "hgvs": [ "NC_000015.10:g.89330276C>T", "CM000677.2:g.89330276C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89873507, "referenceAllele": "C", "start": 89873506 } ], "hgvs": [ "NC_000015.9:g.89873507C>T", "CM000677.1:g.89873507C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 87674511, "referenceAllele": "C", "start": 87674510 } ], "hgvs": [ "NC_000015.8:g.87674511C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 9520, "referenceAllele": "G", "start": 9519 } ], "hgvs": [ "NG_008218.1:g.9520G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000956" }, { "coordinates": [ { "allele": "A", "end": 9520, "referenceAllele": "G", "start": 9519 } ], "hgvs": [ "NG_008218.2:g.9520G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616096" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1604, "referenceAllele": "G", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636937.2:c.660G>A" ], "proteinEffect": { "hgvs": "ENSP00000516154.1:p.Trp220Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS906362" }, { "coordinates": [ { "allele": "A", "end": 715, "referenceAllele": "G", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN056246", "geneNCBI_id": 125316803, "geneSymbol": "POLGARF", "hgvs": [ "ENST00000706918.1:c.715G>A" ], "proteinEffect": { "hgvs": "ENSP00000516626.1:p.Val239Ile", "hgvsWellDefined": "ENSP00000516626.1:p.Val239Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS913259" }, { "coordinates": [ { "allele": "A", "end": 971, "referenceAllele": "G", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.11:c.660G>A" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Trp220Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS743029", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.660G>A" }, "RefSeq": { "hgvs": "NM_002693.3:c.660G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Trp220Ter" }, "RefSeq": { "hgvs": "NP_002684.1:p.Trp220Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 261, "referenceAllele": "G", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.3:c.261G>A" ], "proteinEffect": { "hgvs": "ENSP00000432885.2:p.Trp87Ter", "hgvsWellDefined": "ENSP00000432885.2:p.Trp87_Gly1035delinsTyrSerTrpCysSerGlnArgLeuValGluGluArgTyrSerTrpThrSerGlnLeuSerProAlaAspLeuIleProLeuGluValProThrGlyAlaSerSerProThrGlnArgAspTrpGlnGluGlnLeuValValGlyHisAsnValSerPheAspArgAlaHisIleArgGluGlnTyrLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrSerLysIleProSerSerTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759172" }, { "coordinates": [ { "allele": "A", "end": 858, "referenceAllele": "G", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000635986.2:c.660G>A" ], "proteinEffect": { "hgvs": "ENSP00000490653.2:p.Trp220Ter", "hgvsWellDefined": "ENSP00000490653.2:p.Trp220_His995delinsTyrSerTrpCysSerGlnArgLeuValGluGluArgTyrSerTrpThrSerGlnLeuSerProAlaAspLeuIleProLeuGluValProThrGlyAlaSerSerProThrGlnArgAspTrpGlnGluGlnLeuValValGlyHisAsnValSerPheAspArgAlaHisIleArgGluGlnTyrLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762785" }, { "coordinates": [ { "allele": "A", "end": 971, "referenceAllele": "G", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636774.1:c.660G>A" ], "proteinEffect": { "hgvs": "ENSP00000489799.1:p.Trp220Ter", "hgvsWellDefined": "ENSP00000489799.1:p.Trp220_Leu482delinsTyrSerTrpCysSerGlnArgLeuValGluGluArgTyrSerTrpThrSerGlnLeuSerProAlaAspLeuIleProLeuGluValProThrGlyAlaSerSerProThrGlnArgAspTrpGlnGluGlnLeuValValGlyHisAsnValSerPheAspArgAlaHisIleArgGluGlnTyrLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluSerGlyLeuAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763370" }, { "coordinates": [ { "allele": "A", "end": 49, "endIntronDirection": "-", "endIntronOffset": 14, "referenceAllele": "G", "start": 49, "startIntronDirection": "-", "startIntronOffset": 15 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637307.1:c.50-15G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763770" }, { "coordinates": [ { "allele": "A", "end": 715, "referenceAllele": "G", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000650303.2:c.715G>A" ], "proteinEffect": { "hgvs": "ENSP00000497242.2:p.Val239Ile", "hgvsWellDefined": "ENSP00000497242.2:p.Val239Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS771048" }, { "coordinates": [ { "allele": "A", "end": 317, "referenceAllele": "G", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000666746.1:c.317G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772952" }, { "coordinates": [ { "allele": "A", "end": 858, "referenceAllele": "G", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672071.1:n.858G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773259" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.9:c.660G>A" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Trp220Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS252051" }, { "coordinates": [ { "allele": "A", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000442287.6:c.660G>A" ], "proteinEffect": { "hgvs": "ENSP00000399851.2:p.Trp220Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS296812" }, { "coordinates": [ { "allele": "A", "end": 1121, "referenceAllele": "G", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000631044.2:c.*43G>A" ], "proteinEffect": { "hgvs": "ENSP00000486730.1:n.*43G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407466" }, { "coordinates": [ { "allele": "A", "end": 930, "referenceAllele": "G", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.1:c.660G>A" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Trp220Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS011503" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.2:c.660G>A" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Trp220Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS027982" }, { "coordinates": [ { "allele": "A", "end": 959, "referenceAllele": "G", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.2:c.660G>A" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Trp220Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676825" }, { "coordinates": [ { "allele": "A", "end": 971, "referenceAllele": "G", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.3:c.660G>A" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Trp220Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS727303", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.660G>A" }, "RefSeq": { "hgvs": "NM_002693.3:c.660G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Trp220Ter" }, "RefSeq": { "hgvs": "NP_002684.1:p.Trp220Ter" } } } } ], "type": "nucleotide" }