{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA122524", "communityStandardTitle": [ "NM_002467.6(MYC):c.162G>C (p.Glu54Asp)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1159795", "active": true, "id": "COSM1159795" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1159796", "active": true, "id": "COSM1159796" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27615[alleleid]", "alleleId": 27615, "preferredName": "NM_002467.6(MYC):c.162G>C (p.Glu54Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12576", "RCV": [ "RCV000013404" ], "variationId": 12576 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.128750625G>C?assembly=hg19", "id": "chr8:g.128750625G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.127738379G>C?assembly=hg38", "id": "chr8:g.127738379G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918684", "rs": 121918684 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "C", "end": 127738379, "referenceAllele": "G", "start": 127738378 } ], "hgvs": [ "NC_000008.11:g.127738379G>C", "CM000670.2:g.127738379G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "C", "end": 128750625, "referenceAllele": "G", "start": 128750624 } ], "hgvs": [ "NC_000008.10:g.128750625G>C", "CM000670.1:g.128750625G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "C", "end": 128819807, "referenceAllele": "G", "start": 128819806 } ], "hgvs": [ "NC_000008.9:g.128819807G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "C", "end": 7310, "referenceAllele": "G", "start": 7309 } ], "hgvs": [ "NG_007161.1:g.7310G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000506" }, { "coordinates": [ { "allele": "C", "end": 7946, "referenceAllele": "G", "start": 7945 } ], "hgvs": [ "NG_007161.2:g.7946G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS616071" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 373, "referenceAllele": "G", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000707113.1:c.117G>C" ], "proteinEffect": { "hgvs": "ENSP00000516742.1:p.Glu39Asp", "hgvsWellDefined": "ENSP00000516742.1:p.Glu39Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS913321" }, { "coordinates": [ { "allele": "C", "end": 448, "referenceAllele": "G", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000707114.1:c.117G>C" ], "proteinEffect": { "hgvs": "ENSP00000516743.1:p.Glu39Asp", "hgvsWellDefined": "ENSP00000516743.1:p.Glu39Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS913322" }, { "coordinates": [ { "allele": "C", "end": 643, "referenceAllele": "G", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000707115.1:c.117G>C" ], "proteinEffect": { "hgvs": "ENSP00000516744.1:p.Glu39Asp", "hgvsWellDefined": "ENSP00000516744.1:p.Glu39Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS913323" }, { "coordinates": [ { "allele": "C", "end": 241, "referenceAllele": "G", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000707116.1:c.117G>C" ], "proteinEffect": { "hgvs": "ENSP00000516745.1:p.Glu39Asp", "hgvsWellDefined": "ENSP00000516745.1:p.Glu39Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS913324" }, { "coordinates": [ { "allele": "C", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000517291.2:c.159G>C" ], "proteinEffect": { "hgvs": "ENSP00000429441.2:p.Glu53Asp", "hgvsWellDefined": "ENSP00000429441.2:p.Glu53Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS758561" }, { "coordinates": [ { "allele": "C", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000524013.2:c.159G>C" ], "proteinEffect": { "hgvs": "ENSP00000430235.2:p.Glu53Asp", "hgvsWellDefined": "ENSP00000430235.2:p.Glu53Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS758831" }, { "coordinates": [ { "allele": "C", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000621592.8:c.162G>C" ], "proteinEffect": { "hgvs": "ENSP00000478887.2:p.Glu54Asp", "hgvsWellDefined": "ENSP00000478887.2:p.Glu54Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS762333", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000621592.8:c.162G>C" }, "RefSeq": { "hgvs": "NM_002467.6:c.162G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000478887.2:p.Glu54Asp" }, "RefSeq": { "hgvs": "NP_002458.2:p.Glu54Asp" } } } }, { "coordinates": [ { "allele": "C", "end": 278, "referenceAllele": "G", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000651626.1:c.-184G>C" ], "proteinEffect": { "hgvs": "ENSP00000499182.1:n.-184G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS771778" }, { "coordinates": [ { "allele": "C", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000652288.1:c.117G>C" ], "proteinEffect": { "hgvs": "ENSP00000499105.1:p.Glu39Asp", "hgvsWellDefined": "ENSP00000499105.1:p.Glu39Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS772123" }, { "coordinates": [ { "allele": "C", "end": 1322, "referenceAllele": "G", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000259523.10:c.117G>C" ], "proteinEffect": { "hgvs": "ENSP00000259523.6:p.Glu39Asp", "hgvsWellDefined": "ENSP00000259523.6:p.Glu39Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS250500" }, { "coordinates": [ { "allele": "C", "end": 672, "referenceAllele": "G", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000377970.6:c.117G>C" ], "proteinEffect": { "hgvs": "ENSP00000367207.3:p.Glu39Asp", "hgvsWellDefined": "ENSP00000367207.3:p.Glu39Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS271832" }, { "coordinates": [ { "allele": "C", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000517291.1:c.159G>C" ], "proteinEffect": { "hgvs": "ENSP00000429441.1:p.Glu53Asp", "hgvsWellDefined": "ENSP00000429441.1:p.Glu53Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS345009" }, { "coordinates": [ { "allele": "C", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000520751.1:c.83G>C" ], "proteinEffect": { "hgvs": "ENSP00000430226.1:p.Ser28Thr", "hgvsWellDefined": "ENSP00000430226.1:p.Ser28Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS347732" }, { "coordinates": [ { "allele": "C", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000524013.1:c.159G>C" ], "proteinEffect": { "hgvs": "ENSP00000430235.1:p.Glu53Asp", "hgvsWellDefined": "ENSP00000430235.1:p.Glu53Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS350264" }, { "coordinates": [ { "allele": "C", "end": 687, "referenceAllele": "G", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000613283.1:c.162G>C" ], "proteinEffect": { "hgvs": "ENSP00000479618.1:p.Glu54Asp", "hgvsWellDefined": "ENSP00000479618.1:p.Glu54Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS401678" }, { "coordinates": [ { "allele": "C", "end": 687, "referenceAllele": "G", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "ENST00000621592.5:c.162G>C" ], "proteinEffect": { "hgvs": "ENSP00000478887.1:p.Glu54Asp", "hgvsWellDefined": "ENSP00000478887.1:p.Glu54Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS405341" }, { "@id": "http://reg.genome.network/allele/PA122525", "coordinates": [ { "allele": "C", "end": 687, "referenceAllele": "G", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "NM_002467.4:c.162G>C" ], "proteinEffect": { "hgvs": "NP_002458.2:p.Glu54Asp", "hgvsWellDefined": "NP_002458.2:p.Glu54Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS027769" }, { "@id": "http://reg.genome.network/allele/PA2827939393", "coordinates": [ { "allele": "C", "end": 1319, "referenceAllele": "G", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "NM_001354870.1:c.159G>C" ], "proteinEffect": { "hgvs": "NP_001341799.1:p.Glu53Asp", "hgvsWellDefined": "NP_001341799.1:p.Glu53Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS522727" }, { "@id": "http://reg.genome.network/allele/PA122525", "coordinates": [ { "allele": "C", "end": 1322, "referenceAllele": "G", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "NM_002467.5:c.162G>C" ], "proteinEffect": { "hgvs": "NP_002458.2:p.Glu54Asp", "hgvsWellDefined": "NP_002458.2:p.Glu54Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS524998" }, { "@id": "http://reg.genome.network/allele/PA122525", "coordinates": [ { "allele": "C", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN007553", "geneNCBI_id": 4609, "geneSymbol": "MYC", "hgvs": [ "NM_002467.6:c.162G>C" ], "proteinEffect": { "hgvs": "NP_002458.2:p.Glu54Asp", "hgvsWellDefined": "NP_002458.2:p.Glu54Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS695551", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000621592.8:c.162G>C" }, "RefSeq": { "hgvs": "NM_002467.6:c.162G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000478887.2:p.Glu54Asp" }, "RefSeq": { "hgvs": "NP_002458.2:p.Glu54Asp" } } } } ], "type": "nucleotide" }