{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393750112", "communityStandardTitle": [ "NM_002693.3(POLG):c.3305A>C (p.Gln1102Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1978271[alleleid]", "alleleId": 1978271, "preferredName": "NM_002693.3(POLG):c.3305A>C (p.Gln1102Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1918060", "RCV": [ "RCV002617170" ], "variationId": 1918060 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89861949T>G?assembly=hg19", "id": "chr15:g.89861949T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89318718T>G?assembly=hg38", "id": "chr15:g.89318718T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2509203709", "rs": 2509203709 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "G", "end": 89318718, "referenceAllele": "T", "start": 89318717 } ], "hgvs": [ "NC_000015.10:g.89318718T>G", "CM000677.2:g.89318718T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "G", "end": 89861949, "referenceAllele": "T", "start": 89861948 } ], "hgvs": [ "NC_000015.9:g.89861949T>G", "CM000677.1:g.89861949T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "G", "end": 87662953, "referenceAllele": "T", "start": 87662952 } ], "hgvs": [ "NC_000015.8:g.87662953T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "C", "end": 21078, "referenceAllele": "A", "start": 21077 } ], "hgvs": [ "NG_008218.1:g.21078A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000956" }, { "coordinates": [ { "allele": "G", "end": 79756, "referenceAllele": "T", "start": 79755 } ], "hgvs": [ "NG_011736.1:g.79756T>G", "LRG_500:g.79756T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001939" }, { "coordinates": [ { "allele": "C", "end": 21078, "referenceAllele": "A", "start": 21077 } ], "hgvs": [ "NG_008218.2:g.21078A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS616096" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 4249, "referenceAllele": "A", "start": 4248 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636937.2:c.3305A>C" ], "proteinEffect": { "hgvs": "ENSP00000516154.1:p.Gln1102Pro", "hgvsWellDefined": "ENSP00000516154.1:p.Gln1102Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS906362" }, { "coordinates": [ { "allele": "C", "end": 3616, "referenceAllele": "A", "start": 3615 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.11:c.3305A>C" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Gln1102Pro", "hgvsWellDefined": "ENSP00000268124.5:p.Gln1102Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS743029", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.3305A>C" }, "RefSeq": { "hgvs": "NM_002693.3:c.3305A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Gln1102Pro" }, "RefSeq": { "hgvs": "NP_002684.1:p.Gln1102Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 2906, "referenceAllele": "A", "start": 2905 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.3:c.2906A>C" ], "proteinEffect": { "hgvs": "ENSP00000432885.2:p.Gln969Pro", "hgvsWellDefined": "ENSP00000432885.2:p.Gln969Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS759172" }, { "coordinates": [ { "allele": "C", "end": 3561, "referenceAllele": "A", "start": 3560 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000635986.2:c.*375A>C" ], "proteinEffect": { "hgvs": "ENSP00000490653.2:n.*375A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS762785" }, { "coordinates": [ { "allele": "C", "end": 3632, "referenceAllele": "A", "start": 3631 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636774.1:c.*1872A>C" ], "proteinEffect": { "hgvs": "ENSP00000489799.1:n.*1872A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS763370" }, { "coordinates": [ { "allele": "C", "end": 2114, "referenceAllele": "A", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637238.1:c.2114A>C" ], "proteinEffect": { "hgvs": "ENSP00000490756.1:n.2114A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS763718" }, { "coordinates": [ { "allele": "C", "end": 2377, "referenceAllele": "A", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637264.1:c.2377A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS763738" }, { "coordinates": [ { "allele": "C", "end": 2882, "referenceAllele": "A", "start": 2881 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000666746.1:c.2882A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS772952" }, { "coordinates": [ { "allele": "C", "end": 3503, "referenceAllele": "A", "start": 3502 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672071.1:n.3503A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS773259" }, { "coordinates": [ { "allele": "C", "end": 482, "referenceAllele": "A", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672695.1:n.482A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS773458" }, { "coordinates": [ { "allele": "C", "end": 3305, "referenceAllele": "A", "start": 3304 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672923.2:n.3305A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS773544" }, { "coordinates": [ { "allele": "C", "end": 3639, "referenceAllele": "A", "start": 3638 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.9:c.3305A>C" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Gln1102Pro", "hgvsWellDefined": "ENSP00000268124.5:p.Gln1102Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS252051" }, { "coordinates": [ { "allele": "C", "end": 3641, "referenceAllele": "A", "start": 3640 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000442287.6:c.3305A>C" ], "proteinEffect": { "hgvs": "ENSP00000399851.2:p.Gln1102Pro", "hgvsWellDefined": "ENSP00000399851.2:p.Gln1102Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS296812" }, { "coordinates": [ { "allele": "C", "end": 389, "referenceAllele": "A", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.2:c.389A>C" ], "proteinEffect": { "hgvs": "ENSP00000432885.1:p.Gln130Pro", "hgvsWellDefined": "ENSP00000432885.1:p.Gln130Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS355570" }, { "coordinates": [ { "allele": "C", "end": 3807, "referenceAllele": "A", "start": 3806 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000631044.2:c.*2729A>C" ], "proteinEffect": { "hgvs": "ENSP00000486730.1:n.*2729A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS407466" }, { "@id": "http://reg.genome.network/allele/PA2825622426", "coordinates": [ { "allele": "C", "end": 3575, "referenceAllele": "A", "start": 3574 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.1:c.3305A>C" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Gln1102Pro", "hgvsWellDefined": "NP_001119603.1:p.Gln1102Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS011503" }, { "@id": "http://reg.genome.network/allele/PA2580281467", "coordinates": [ { "allele": "C", "end": 3587, "referenceAllele": "A", "start": 3586 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.2:c.3305A>C" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Gln1102Pro", "hgvsWellDefined": "NP_002684.1:p.Gln1102Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS027982" }, { "@id": "http://reg.genome.network/allele/PA2825622426", "coordinates": [ { "allele": "C", "end": 3604, "referenceAllele": "A", "start": 3603 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.2:c.3305A>C" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Gln1102Pro", "hgvsWellDefined": "NP_001119603.1:p.Gln1102Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS676825" }, { "@id": "http://reg.genome.network/allele/PA2580281467", "coordinates": [ { "allele": "C", "end": 3616, "referenceAllele": "A", "start": 3615 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.3:c.3305A>C" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Gln1102Pro", "hgvsWellDefined": "NP_002684.1:p.Gln1102Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS727303", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.3305A>C" }, "RefSeq": { "hgvs": "NM_002693.3:c.3305A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Gln1102Pro" }, "RefSeq": { "hgvs": "NP_002684.1:p.Gln1102Pro" } } } } ], "type": "nucleotide" }