{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA316756", "communityStandardTitle": [ "NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202926[alleleid]", "alleleId": 202926, "preferredName": "NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206556", "RCV": [ "RCV000188613", "RCV000758420", "RCV000762952", "RCV001263172", "RCV001753588", "RCV001814095", "RCV003984830", "RCV003985757" ], "variationId": 206556 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-89861968-G-A", "id": "15-89861968-G-A", "variant": "15:89861968 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89861968G>A?assembly=hg19", "id": "chr15:g.89861968G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89318737G>A?assembly=hg38", "id": "chr15:g.89318737G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/201732356", "rs": 201732356 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89861968-G-A?dataset=gnomad_r2_1", "id": "15-89861968-G-A", "variant": "15:89861968 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89318737-G-A?dataset=gnomad_r3", "id": "15-89318737-G-A", "variant": "15:89318737 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89318737-G-A?dataset=gnomad_r4", "id": "15-89318737-G-A", "variant": "15:89318737 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 89318737, "referenceAllele": "G", "start": 89318736 } ], "hgvs": [ "NC_000015.10:g.89318737G>A", "CM000677.2:g.89318737G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 89861968, "referenceAllele": "G", "start": 89861967 } ], "hgvs": [ "NC_000015.9:g.89861968G>A", "CM000677.1:g.89861968G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 87662972, "referenceAllele": "G", "start": 87662971 } ], "hgvs": [ "NC_000015.8:g.87662972G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 21059, "referenceAllele": "C", "start": 21058 } ], "hgvs": [ "NG_008218.1:g.21059C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000956" }, { "coordinates": [ { "allele": "A", "end": 79775, "referenceAllele": "G", "start": 79774 } ], "hgvs": [ "NG_011736.1:g.79775G>A", "LRG_500:g.79775G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001939" }, { "coordinates": [ { "allele": "T", "end": 21059, "referenceAllele": "C", "start": 21058 } ], "hgvs": [ "NG_008218.2:g.21059C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616096" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4230, "referenceAllele": "C", "start": 4229 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636937.2:c.3286C>T" ], "proteinEffect": { "hgvs": "ENSP00000516154.1:p.Arg1096Cys", "hgvsWellDefined": "ENSP00000516154.1:p.Arg1096Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS906362" }, { "coordinates": [ { "allele": "T", "end": 3597, "referenceAllele": "C", "start": 3596 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.11:c.3286C>T" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Arg1096Cys", "hgvsWellDefined": "ENSP00000268124.5:p.Arg1096Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS743029", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.3286C>T" }, "RefSeq": { "hgvs": "NM_002693.3:c.3286C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Arg1096Cys" }, "RefSeq": { "hgvs": "NP_002684.1:p.Arg1096Cys" } } } }, { "coordinates": [ { "allele": "T", "end": 2887, "referenceAllele": "C", "start": 2886 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.3:c.2887C>T" ], "proteinEffect": { "hgvs": "ENSP00000432885.2:p.Arg963Cys", "hgvsWellDefined": "ENSP00000432885.2:p.Arg963Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS759172" }, { "coordinates": [ { "allele": "T", "end": 3542, "referenceAllele": "C", "start": 3541 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000635986.2:c.*356C>T" ], "proteinEffect": { "hgvs": "ENSP00000490653.2:n.*356C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS762785" }, { "coordinates": [ { "allele": "T", "end": 3613, "referenceAllele": "C", "start": 3612 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636774.1:c.*1853C>T" ], "proteinEffect": { "hgvs": "ENSP00000489799.1:n.*1853C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763370" }, { "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637238.1:c.2095C>T" ], "proteinEffect": { "hgvs": "ENSP00000490756.1:n.2095C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763718" }, { "coordinates": [ { "allele": "T", "end": 2358, "referenceAllele": "C", "start": 2357 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637264.1:c.2358C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763738" }, { "coordinates": [ { "allele": "T", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000666746.1:c.2863C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772952" }, { "coordinates": [ { "allele": "T", "end": 3484, "referenceAllele": "C", "start": 3483 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672071.1:n.3484C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773259" }, { "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672695.1:n.463C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773458" }, { "coordinates": [ { "allele": "T", "end": 3286, "referenceAllele": "C", "start": 3285 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672923.2:n.3286C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773544" }, { "coordinates": [ { "allele": "T", "end": 3620, "referenceAllele": "C", "start": 3619 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.9:c.3286C>T" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Arg1096Cys", "hgvsWellDefined": "ENSP00000268124.5:p.Arg1096Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS252051" }, { "coordinates": [ { "allele": "T", "end": 3622, "referenceAllele": "C", "start": 3621 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000442287.6:c.3286C>T" ], "proteinEffect": { "hgvs": "ENSP00000399851.2:p.Arg1096Cys", "hgvsWellDefined": "ENSP00000399851.2:p.Arg1096Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS296812" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.2:c.370C>T" ], "proteinEffect": { "hgvs": "ENSP00000432885.1:p.Arg124Cys", "hgvsWellDefined": "ENSP00000432885.1:p.Arg124Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS355570" }, { "coordinates": [ { "allele": "T", "end": 3788, "referenceAllele": "C", "start": 3787 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000631044.2:c.*2710C>T" ], "proteinEffect": { "hgvs": "ENSP00000486730.1:n.*2710C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS407466" }, { "@id": "http://reg.genome.network/allele/PA101766", "coordinates": [ { "allele": "T", "end": 3556, "referenceAllele": "C", "start": 3555 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.1:c.3286C>T" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Arg1096Cys", "hgvsWellDefined": "NP_001119603.1:p.Arg1096Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011503" }, { "@id": "http://reg.genome.network/allele/PA316757", "coordinates": [ { "allele": "T", "end": 3568, "referenceAllele": "C", "start": 3567 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.2:c.3286C>T" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Arg1096Cys", "hgvsWellDefined": "NP_002684.1:p.Arg1096Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS027982" }, { "@id": "http://reg.genome.network/allele/PA101766", "coordinates": [ { "allele": "T", "end": 3585, "referenceAllele": "C", "start": 3584 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.2:c.3286C>T" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Arg1096Cys", "hgvsWellDefined": "NP_001119603.1:p.Arg1096Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676825" }, { "@id": "http://reg.genome.network/allele/PA316757", "coordinates": [ { "allele": "T", "end": 3597, "referenceAllele": "C", "start": 3596 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.3:c.3286C>T" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Arg1096Cys", "hgvsWellDefined": "NP_002684.1:p.Arg1096Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS727303", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.3286C>T" }, "RefSeq": { "hgvs": "NM_002693.3:c.3286C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Arg1096Cys" }, "RefSeq": { "hgvs": "NP_002684.1:p.Arg1096Cys" } } } } ], "type": "nucleotide" }