{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA316774", "communityStandardTitle": [ "NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202914[alleleid]", "alleleId": 202914, "preferredName": "NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206565", "RCV": [ "RCV000188622", "RCV000758478" ], "variationId": 206565 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-89861784-T-C", "id": "15-89861784-T-C", "variant": "15:89861784 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89861784T>C?assembly=hg19", "id": "chr15:g.89861784T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89318553T>C?assembly=hg38", "id": "chr15:g.89318553T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/548076633", "rs": 548076633 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89861784-T-C?dataset=gnomad_r2_1", "id": "15-89861784-T-C", "variant": "15:89861784 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89318553-T-C?dataset=gnomad_r3", "id": "15-89318553-T-C", "variant": "15:89318553 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89318553-T-C?dataset=gnomad_r4", "id": "15-89318553-T-C", "variant": "15:89318553 T / C" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 89318553, "referenceAllele": "T", "start": 89318552 } ], "hgvs": [ "NC_000015.10:g.89318553T>C", "CM000677.2:g.89318553T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 89861784, "referenceAllele": "T", "start": 89861783 } ], "hgvs": [ "NC_000015.9:g.89861784T>C", "CM000677.1:g.89861784T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 87662788, "referenceAllele": "T", "start": 87662787 } ], "hgvs": [ "NC_000015.8:g.87662788T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "G", "end": 21243, "referenceAllele": "A", "start": 21242 } ], "hgvs": [ "NG_008218.1:g.21243A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000956" }, { "coordinates": [ { "allele": "C", "end": 79591, "referenceAllele": "T", "start": 79590 } ], "hgvs": [ "NG_011736.1:g.79591T>C", "LRG_500:g.79591T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001939" }, { "coordinates": [ { "allele": "G", "end": 21243, "referenceAllele": "A", "start": 21242 } ], "hgvs": [ "NG_008218.2:g.21243A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS616096" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 4414, "referenceAllele": "A", "start": 4413 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636937.2:c.3470A>G" ], "proteinEffect": { "hgvs": "ENSP00000516154.1:p.Asn1157Ser", "hgvsWellDefined": "ENSP00000516154.1:p.Asn1157Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS906362" }, { "coordinates": [ { "allele": "G", "end": 3781, "referenceAllele": "A", "start": 3780 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.11:c.3470A>G" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Asn1157Ser", "hgvsWellDefined": "ENSP00000268124.5:p.Asn1157Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS743029", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.3470A>G" }, "RefSeq": { "hgvs": "NM_002693.3:c.3470A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Asn1157Ser" }, "RefSeq": { "hgvs": "NP_002684.1:p.Asn1157Ser" } } } }, { "coordinates": [ { "allele": "G", "end": 3071, "referenceAllele": "A", "start": 3070 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.3:c.3071A>G" ], "proteinEffect": { "hgvs": "ENSP00000432885.2:p.Asn1024Ser", "hgvsWellDefined": "ENSP00000432885.2:p.Asn1024Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS759172" }, { "coordinates": [ { "allele": "G", "end": 3726, "referenceAllele": "A", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000635986.2:c.*540A>G" ], "proteinEffect": { "hgvs": "ENSP00000490653.2:n.*540A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS762785" }, { "coordinates": [ { "allele": "G", "end": 3797, "referenceAllele": "A", "start": 3796 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636774.1:c.*2037A>G" ], "proteinEffect": { "hgvs": "ENSP00000489799.1:n.*2037A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS763370" }, { "coordinates": [ { "allele": "G", "end": 2279, "referenceAllele": "A", "start": 2278 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637238.1:c.2279A>G" ], "proteinEffect": { "hgvs": "ENSP00000490756.1:n.2279A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS763718" }, { "coordinates": [ { "allele": "G", "end": 2542, "referenceAllele": "A", "start": 2541 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637264.1:c.2542A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763738" }, { "coordinates": [ { "allele": "G", "end": 3047, "referenceAllele": "A", "start": 3046 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000666746.1:c.3047A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS772952" }, { "coordinates": [ { "allele": "G", "end": 3668, "referenceAllele": "A", "start": 3667 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672071.1:n.3668A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773259" }, { "coordinates": [ { "allele": "G", "end": 647, "referenceAllele": "A", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672695.1:n.647A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773458" }, { "coordinates": [ { "allele": "G", "end": 3470, "referenceAllele": "A", "start": 3469 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672923.2:n.3470A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773544" }, { "coordinates": [ { "allele": "G", "end": 3804, "referenceAllele": "A", "start": 3803 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.9:c.3470A>G" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Asn1157Ser", "hgvsWellDefined": "ENSP00000268124.5:p.Asn1157Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS252051" }, { "coordinates": [ { "allele": "G", "end": 3806, "referenceAllele": "A", "start": 3805 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000442287.6:c.3470A>G" ], "proteinEffect": { "hgvs": "ENSP00000399851.2:p.Asn1157Ser", "hgvsWellDefined": "ENSP00000399851.2:p.Asn1157Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS296812" }, { "coordinates": [ { "allele": "G", "end": 554, "referenceAllele": "A", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.2:c.554A>G" ], "proteinEffect": { "hgvs": "ENSP00000432885.1:p.Asn185Ser", "hgvsWellDefined": "ENSP00000432885.1:p.Asn185Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS355570" }, { "coordinates": [ { "allele": "G", "end": 3972, "referenceAllele": "A", "start": 3971 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000631044.2:c.*2894A>G" ], "proteinEffect": { "hgvs": "ENSP00000486730.1:n.*2894A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS407466" }, { "@id": "http://reg.genome.network/allele/PA2825622577", "coordinates": [ { "allele": "G", "end": 3740, "referenceAllele": "A", "start": 3739 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.1:c.3470A>G" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Asn1157Ser", "hgvsWellDefined": "NP_001119603.1:p.Asn1157Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011503" }, { "@id": "http://reg.genome.network/allele/PA316775", "coordinates": [ { "allele": "G", "end": 3752, "referenceAllele": "A", "start": 3751 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.2:c.3470A>G" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Asn1157Ser", "hgvsWellDefined": "NP_002684.1:p.Asn1157Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS027982" }, { "@id": "http://reg.genome.network/allele/PA2825622577", "coordinates": [ { "allele": "G", "end": 3769, "referenceAllele": "A", "start": 3768 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.2:c.3470A>G" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Asn1157Ser", "hgvsWellDefined": "NP_001119603.1:p.Asn1157Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676825" }, { "@id": "http://reg.genome.network/allele/PA316775", "coordinates": [ { "allele": "G", "end": 3781, "referenceAllele": "A", "start": 3780 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.3:c.3470A>G" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Asn1157Ser", "hgvsWellDefined": "NP_002684.1:p.Asn1157Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS727303", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.3470A>G" }, "RefSeq": { "hgvs": "NM_002693.3:c.3470A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Asn1157Ser" }, "RefSeq": { "hgvs": "NP_002684.1:p.Asn1157Ser" } } } } ], "type": "nucleotide" }