{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393756505", "communityStandardTitle": [ "NM_002693.3(POLG):c.2310C>A (p.Phe770Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=682360[alleleid]", "alleleId": 682360, "preferredName": "NM_002693.3(POLG):c.2310C>A (p.Phe770Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/694425", "RCV": [ "RCV000855756" ], "variationId": 694425 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89866089G>T?assembly=hg19", "id": "chr15:g.89866089G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89322858G>T?assembly=hg38", "id": "chr15:g.89322858G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/755315398", "rs": 755315398 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89322858, "referenceAllele": "G", "start": 89322857 } ], "hgvs": [ "NC_000015.10:g.89322858G>T", "CM000677.2:g.89322858G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89866089, "referenceAllele": "G", "start": 89866088 } ], "hgvs": [ "NC_000015.9:g.89866089G>T", "CM000677.1:g.89866089G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 87667093, "referenceAllele": "G", "start": 87667092 } ], "hgvs": [ "NC_000015.8:g.87667093G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 16938, "referenceAllele": "C", "start": 16937 } ], "hgvs": [ "NG_008218.1:g.16938C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000956" }, { "coordinates": [ { "allele": "A", "end": 16938, "referenceAllele": "C", "start": 16937 } ], "hgvs": [ "NG_008218.2:g.16938C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616096" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3254, "referenceAllele": "C", "start": 3253 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636937.2:c.2310C>A" ], "proteinEffect": { "hgvs": "ENSP00000516154.1:p.Phe770Leu", "hgvsWellDefined": "ENSP00000516154.1:p.Phe770Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS906362" }, { "coordinates": [ { "allele": "A", "end": 2621, "referenceAllele": "C", "start": 2620 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.11:c.2310C>A" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Phe770Leu", "hgvsWellDefined": "ENSP00000268124.5:p.Phe770Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS743029", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.2310C>A" }, "RefSeq": { "hgvs": "NM_002693.3:c.2310C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Phe770Leu" }, "RefSeq": { "hgvs": "NP_002684.1:p.Phe770Leu" } } } }, { "coordinates": [ { "allele": "A", "end": 1911, "referenceAllele": "C", "start": 1910 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.3:c.1911C>A" ], "proteinEffect": { "hgvs": "ENSP00000432885.2:p.Phe637Leu", "hgvsWellDefined": "ENSP00000432885.2:p.Phe637Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS759172" }, { "coordinates": [ { "allele": "A", "end": 2508, "referenceAllele": "C", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000635986.2:c.2310C>A" ], "proteinEffect": { "hgvs": "ENSP00000490653.2:p.Phe770Leu", "hgvsWellDefined": "ENSP00000490653.2:p.Phe770Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS762785" }, { "coordinates": [ { "allele": "A", "end": 2637, "referenceAllele": "C", "start": 2636 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636774.1:c.*877C>A" ], "proteinEffect": { "hgvs": "ENSP00000489799.1:n.*877C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763370" }, { "coordinates": [ { "allele": "A", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637238.1:c.1007C>A" ], "proteinEffect": { "hgvs": "ENSP00000490756.1:n.1007C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763718" }, { "coordinates": [ { "allele": "A", "end": 1382, "referenceAllele": "C", "start": 1381 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637264.1:c.1382C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763738" }, { "coordinates": [ { "allele": "A", "end": 1887, "referenceAllele": "C", "start": 1886 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000666746.1:c.1887C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772952" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000670281.1:c.630C>A" ], "proteinEffect": { "hgvs": "ENSP00000499709.1:p.Phe210Leu", "hgvsWellDefined": "ENSP00000499709.1:p.Phe210Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773095" }, { "coordinates": [ { "allele": "A", "end": 2508, "referenceAllele": "C", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672071.1:n.2508C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773259" }, { "coordinates": [ { "allele": "A", "end": 2368, "endIntronDirection": "+", "endIntronOffset": 546, "referenceAllele": "C", "start": 2368, "startIntronDirection": "+", "startIntronOffset": 545 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672923.2:n.2368+546C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773544" }, { "coordinates": [ { "allele": "A", "end": 2644, "referenceAllele": "C", "start": 2643 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.9:c.2310C>A" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Phe770Leu", "hgvsWellDefined": "ENSP00000268124.5:p.Phe770Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS252051" }, { "coordinates": [ { "allele": "A", "end": 2646, "referenceAllele": "C", "start": 2645 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000442287.6:c.2310C>A" ], "proteinEffect": { "hgvs": "ENSP00000399851.2:p.Phe770Leu", "hgvsWellDefined": "ENSP00000399851.2:p.Phe770Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS296812" }, { "coordinates": [ { "allele": "A", "end": 584, "referenceAllele": "C", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000526314.2:c.584C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352202" }, { "coordinates": [ { "allele": "A", "end": 459, "referenceAllele": "C", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000526398.1:c.459C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352274" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "C", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000528881.2:c.79C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS354351" }, { "coordinates": [ { "allele": "A", "end": 69, "referenceAllele": "C", "start": 68 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530715.5:c.69C>A" ], "proteinEffect": { "hgvs": "ENSP00000431395.1:p.Phe23Leu", "hgvsWellDefined": "ENSP00000431395.1:p.Phe23Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS355923" }, { "coordinates": [ { "allele": "A", "end": 467, "endIntronDirection": "+", "endIntronOffset": 546, "referenceAllele": "C", "start": 467, "startIntronDirection": "+", "startIntronOffset": 545 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000532584.5:n.467+546C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS357496" }, { "coordinates": [ { "allele": "A", "end": 2812, "referenceAllele": "C", "start": 2811 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000631044.2:c.*1734C>A" ], "proteinEffect": { "hgvs": "ENSP00000486730.1:n.*1734C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407466" }, { "@id": "http://reg.genome.network/allele/PA2825621652", "coordinates": [ { "allele": "A", "end": 2580, "referenceAllele": "C", "start": 2579 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.1:c.2310C>A" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Phe770Leu", "hgvsWellDefined": "NP_001119603.1:p.Phe770Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS011503" }, { "@id": "http://reg.genome.network/allele/PA915968614", "coordinates": [ { "allele": "A", "end": 2592, "referenceAllele": "C", "start": 2591 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.2:c.2310C>A" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Phe770Leu", "hgvsWellDefined": "NP_002684.1:p.Phe770Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS027982" }, { "@id": "http://reg.genome.network/allele/PA2825621652", "coordinates": [ { "allele": "A", "end": 2609, "referenceAllele": "C", "start": 2608 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.2:c.2310C>A" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Phe770Leu", "hgvsWellDefined": "NP_001119603.1:p.Phe770Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS676825" }, { "@id": "http://reg.genome.network/allele/PA915968614", "coordinates": [ { "allele": "A", "end": 2621, "referenceAllele": "C", "start": 2620 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.3:c.2310C>A" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Phe770Leu", "hgvsWellDefined": "NP_002684.1:p.Phe770Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS727303", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.2310C>A" }, "RefSeq": { "hgvs": "NM_002693.3:c.2310C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Phe770Leu" }, "RefSeq": { "hgvs": "NP_002684.1:p.Phe770Leu" } } } } ], "type": "nucleotide" }