{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10602277", "communityStandardTitle": [ "NM_002693.3(POLG):c.3472C>A (p.Leu1158Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=610708[alleleid]", "alleleId": 610708, "preferredName": "NM_002693.3(POLG):c.3472C>A (p.Leu1158Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/619439", "RCV": [ "RCV000758479" ], "variationId": 619439 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89861782G>T?assembly=hg19", "id": "chr15:g.89861782G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89318551G>T?assembly=hg38", "id": "chr15:g.89318551G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1278715599", "rs": 1278715599 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89861782-G-T?dataset=gnomad_r2_1", "id": "15-89861782-G-T", "variant": "15:89861782 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89318551-G-T?dataset=gnomad_r3", "id": "15-89318551-G-T", "variant": "15:89318551 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89318551-G-T?dataset=gnomad_r4", "id": "15-89318551-G-T", "variant": "15:89318551 G / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89318551, "referenceAllele": "G", "start": 89318550 } ], "hgvs": [ "NC_000015.10:g.89318551G>T", "CM000677.2:g.89318551G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89861782, "referenceAllele": "G", "start": 89861781 } ], "hgvs": [ "NC_000015.9:g.89861782G>T", "CM000677.1:g.89861782G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 87662786, "referenceAllele": "G", "start": 87662785 } ], "hgvs": [ "NC_000015.8:g.87662786G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 21245, "referenceAllele": "C", "start": 21244 } ], "hgvs": [ "NG_008218.1:g.21245C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000956" }, { "coordinates": [ { "allele": "T", "end": 79589, "referenceAllele": "G", "start": 79588 } ], "hgvs": [ "NG_011736.1:g.79589G>T", "LRG_500:g.79589G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001939" }, { "coordinates": [ { "allele": "A", "end": 21245, "referenceAllele": "C", "start": 21244 } ], "hgvs": [ "NG_008218.2:g.21245C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616096" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4416, "referenceAllele": "C", "start": 4415 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636937.2:c.3472C>A" ], "proteinEffect": { "hgvs": "ENSP00000516154.1:p.Leu1158Ile", "hgvsWellDefined": "ENSP00000516154.1:p.Leu1158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS906362" }, { "coordinates": [ { "allele": "A", "end": 3783, "referenceAllele": "C", "start": 3782 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.11:c.3472C>A" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Leu1158Ile", "hgvsWellDefined": "ENSP00000268124.5:p.Leu1158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS743029", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.3472C>A" }, "RefSeq": { "hgvs": "NM_002693.3:c.3472C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Leu1158Ile" }, "RefSeq": { "hgvs": "NP_002684.1:p.Leu1158Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 3073, "referenceAllele": "C", "start": 3072 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.3:c.3073C>A" ], "proteinEffect": { "hgvs": "ENSP00000432885.2:p.Leu1025Ile", "hgvsWellDefined": "ENSP00000432885.2:p.Leu1025Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS759172" }, { "coordinates": [ { "allele": "A", "end": 3728, "referenceAllele": "C", "start": 3727 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000635986.2:c.*542C>A" ], "proteinEffect": { "hgvs": "ENSP00000490653.2:n.*542C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762785" }, { "coordinates": [ { "allele": "A", "end": 3799, "referenceAllele": "C", "start": 3798 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636774.1:c.*2039C>A" ], "proteinEffect": { "hgvs": "ENSP00000489799.1:n.*2039C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763370" }, { "coordinates": [ { "allele": "A", "end": 2281, "referenceAllele": "C", "start": 2280 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637238.1:c.2281C>A" ], "proteinEffect": { "hgvs": "ENSP00000490756.1:n.2281C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763718" }, { "coordinates": [ { "allele": "A", "end": 2544, "referenceAllele": "C", "start": 2543 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637264.1:c.2544C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763738" }, { "coordinates": [ { "allele": "A", "end": 3049, "referenceAllele": "C", "start": 3048 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000666746.1:c.3049C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772952" }, { "coordinates": [ { "allele": "A", "end": 3670, "referenceAllele": "C", "start": 3669 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672071.1:n.3670C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773259" }, { "coordinates": [ { "allele": "A", "end": 649, "referenceAllele": "C", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672695.1:n.649C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773458" }, { "coordinates": [ { "allele": "A", "end": 3472, "referenceAllele": "C", "start": 3471 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672923.2:n.3472C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773544" }, { "coordinates": [ { "allele": "A", "end": 3806, "referenceAllele": "C", "start": 3805 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.9:c.3472C>A" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Leu1158Ile", "hgvsWellDefined": "ENSP00000268124.5:p.Leu1158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS252051" }, { "coordinates": [ { "allele": "A", "end": 3808, "referenceAllele": "C", "start": 3807 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000442287.6:c.3472C>A" ], "proteinEffect": { "hgvs": "ENSP00000399851.2:p.Leu1158Ile", "hgvsWellDefined": "ENSP00000399851.2:p.Leu1158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS296812" }, { "coordinates": [ { "allele": "A", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.2:c.556C>A" ], "proteinEffect": { "hgvs": "ENSP00000432885.1:p.Leu186Ile", "hgvsWellDefined": "ENSP00000432885.1:p.Leu186Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS355570" }, { "coordinates": [ { "allele": "A", "end": 3974, "referenceAllele": "C", "start": 3973 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000631044.2:c.*2896C>A" ], "proteinEffect": { "hgvs": "ENSP00000486730.1:n.*2896C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407466" }, { "@id": "http://reg.genome.network/allele/PA2825622579", "coordinates": [ { "allele": "A", "end": 3742, "referenceAllele": "C", "start": 3741 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.1:c.3472C>A" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Leu1158Ile", "hgvsWellDefined": "NP_001119603.1:p.Leu1158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS011503" }, { "@id": "http://reg.genome.network/allele/PA913193666", "coordinates": [ { "allele": "A", "end": 3754, "referenceAllele": "C", "start": 3753 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.2:c.3472C>A" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Leu1158Ile", "hgvsWellDefined": "NP_002684.1:p.Leu1158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS027982" }, { "@id": "http://reg.genome.network/allele/PA2825622579", "coordinates": [ { "allele": "A", "end": 3771, "referenceAllele": "C", "start": 3770 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.2:c.3472C>A" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Leu1158Ile", "hgvsWellDefined": "NP_001119603.1:p.Leu1158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS676825" }, { "@id": "http://reg.genome.network/allele/PA913193666", "coordinates": [ { "allele": "A", "end": 3783, "referenceAllele": "C", "start": 3782 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.3:c.3472C>A" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Leu1158Ile", "hgvsWellDefined": "NP_002684.1:p.Leu1158Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS727303", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.3472C>A" }, "RefSeq": { "hgvs": "NM_002693.3:c.3472C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Leu1158Ile" }, "RefSeq": { "hgvs": "NP_002684.1:p.Leu1158Ile" } } } } ], "type": "nucleotide" }