{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393750042", "communityStandardTitle": [ "NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=512158[alleleid]", "alleleId": 512158, "preferredName": "NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522129", "RCV": [ "RCV000623937", "RCV000765236", "RCV003626635", "RCV004546534" ], "variationId": 522129 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89861937A>G?assembly=hg19", "id": "chr15:g.89861937A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89318706A>G?assembly=hg38", "id": "chr15:g.89318706A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1354582663", "rs": 1354582663 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89861937-A-G?dataset=gnomad_r2_1", "id": "15-89861937-A-G", "variant": "15:89861937 A / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89318706-A-G?dataset=gnomad_r3", "id": "15-89318706-A-G", "variant": "15:89318706 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89318706-A-G?dataset=gnomad_r4", "id": "15-89318706-A-G", "variant": "15:89318706 A / G" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "G", "end": 89318706, "referenceAllele": "A", "start": 89318705 } ], "hgvs": [ "NC_000015.10:g.89318706A>G", "CM000677.2:g.89318706A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "G", "end": 89861937, "referenceAllele": "A", "start": 89861936 } ], "hgvs": [ "NC_000015.9:g.89861937A>G", "CM000677.1:g.89861937A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "G", "end": 87662941, "referenceAllele": "A", "start": 87662940 } ], "hgvs": [ "NC_000015.8:g.87662941A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "C", "end": 21090, "referenceAllele": "T", "start": 21089 } ], "hgvs": [ "NG_008218.1:g.21090T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000956" }, { "coordinates": [ { "allele": "G", "end": 79744, "referenceAllele": "A", "start": 79743 } ], "hgvs": [ "NG_011736.1:g.79744A>G", "LRG_500:g.79744A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001939" }, { "coordinates": [ { "allele": "C", "end": 21090, "referenceAllele": "T", "start": 21089 } ], "hgvs": [ "NG_008218.2:g.21090T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS616096" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 4261, "referenceAllele": "T", "start": 4260 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636937.2:c.3317T>C" ], "proteinEffect": { "hgvs": "ENSP00000516154.1:p.Val1106Ala", "hgvsWellDefined": "ENSP00000516154.1:p.Val1106Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS906362" }, { "coordinates": [ { "allele": "C", "end": 3628, "referenceAllele": "T", "start": 3627 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.11:c.3317T>C" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Val1106Ala", "hgvsWellDefined": "ENSP00000268124.5:p.Val1106Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS743029", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.3317T>C" }, "RefSeq": { "hgvs": "NM_002693.3:c.3317T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Val1106Ala" }, "RefSeq": { "hgvs": "NP_002684.1:p.Val1106Ala" } } } }, { "coordinates": [ { "allele": "C", "end": 2918, "referenceAllele": "T", "start": 2917 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.3:c.2918T>C" ], "proteinEffect": { "hgvs": "ENSP00000432885.2:p.Val973Ala", "hgvsWellDefined": "ENSP00000432885.2:p.Val973Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS759172" }, { "coordinates": [ { "allele": "C", "end": 3573, "referenceAllele": "T", "start": 3572 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000635986.2:c.*387T>C" ], "proteinEffect": { "hgvs": "ENSP00000490653.2:n.*387T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS762785" }, { "coordinates": [ { "allele": "C", "end": 3644, "referenceAllele": "T", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636774.1:c.*1884T>C" ], "proteinEffect": { "hgvs": "ENSP00000489799.1:n.*1884T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS763370" }, { "coordinates": [ { "allele": "C", "end": 2126, "referenceAllele": "T", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637238.1:c.2126T>C" ], "proteinEffect": { "hgvs": "ENSP00000490756.1:n.2126T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS763718" }, { "coordinates": [ { "allele": "C", "end": 2389, "referenceAllele": "T", "start": 2388 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637264.1:c.2389T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS763738" }, { "coordinates": [ { "allele": "C", "end": 2894, "referenceAllele": "T", "start": 2893 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000666746.1:c.2894T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS772952" }, { "coordinates": [ { "allele": "C", "end": 3515, "referenceAllele": "T", "start": 3514 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672071.1:n.3515T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS773259" }, { "coordinates": [ { "allele": "C", "end": 494, "referenceAllele": "T", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672695.1:n.494T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS773458" }, { "coordinates": [ { "allele": "C", "end": 3317, "referenceAllele": "T", "start": 3316 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672923.2:n.3317T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS773544" }, { "coordinates": [ { "allele": "C", "end": 3651, "referenceAllele": "T", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.9:c.3317T>C" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Val1106Ala", "hgvsWellDefined": "ENSP00000268124.5:p.Val1106Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS252051" }, { "coordinates": [ { "allele": "C", "end": 3653, "referenceAllele": "T", "start": 3652 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000442287.6:c.3317T>C" ], "proteinEffect": { "hgvs": "ENSP00000399851.2:p.Val1106Ala", "hgvsWellDefined": "ENSP00000399851.2:p.Val1106Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS296812" }, { "coordinates": [ { "allele": "C", "end": 401, "referenceAllele": "T", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.2:c.401T>C" ], "proteinEffect": { "hgvs": "ENSP00000432885.1:p.Val134Ala", "hgvsWellDefined": "ENSP00000432885.1:p.Val134Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS355570" }, { "coordinates": [ { "allele": "C", "end": 3819, "referenceAllele": "T", "start": 3818 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000631044.2:c.*2741T>C" ], "proteinEffect": { "hgvs": "ENSP00000486730.1:n.*2741T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS407466" }, { "@id": "http://reg.genome.network/allele/PA2825622438", "coordinates": [ { "allele": "C", "end": 3587, "referenceAllele": "T", "start": 3586 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.1:c.3317T>C" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Val1106Ala", "hgvsWellDefined": "NP_001119603.1:p.Val1106Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS011503" }, { "@id": "http://reg.genome.network/allele/PA658805294", "coordinates": [ { "allele": "C", "end": 3599, "referenceAllele": "T", "start": 3598 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.2:c.3317T>C" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Val1106Ala", "hgvsWellDefined": "NP_002684.1:p.Val1106Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS027982" }, { "@id": "http://reg.genome.network/allele/PA2825622438", "coordinates": [ { "allele": "C", "end": 3616, "referenceAllele": "T", "start": 3615 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.2:c.3317T>C" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Val1106Ala", "hgvsWellDefined": "NP_001119603.1:p.Val1106Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS676825" }, { "@id": "http://reg.genome.network/allele/PA658805294", "coordinates": [ { "allele": "C", "end": 3628, "referenceAllele": "T", "start": 3627 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.3:c.3317T>C" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Val1106Ala", "hgvsWellDefined": "NP_002684.1:p.Val1106Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS727303", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.3317T>C" }, "RefSeq": { "hgvs": "NM_002693.3:c.3317T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Val1106Ala" }, "RefSeq": { "hgvs": "NP_002684.1:p.Val1106Ala" } } } } ], "type": "nucleotide" }