{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA376549987", "communityStandardTitle": [ "NM_020975.6(RET):c.1501C>T (p.Leu501Phe)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=475292[alleleid]", "alleleId": 475292, "preferredName": "NM_020975.6(RET):c.1501C>T (p.Leu501Phe)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/486354", "RCV": [ "RCV000564433", "RCV001853799" ], "variationId": 486354 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43606892C>T?assembly=hg19", "id": "chr10:g.43606892C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43111444C>T?assembly=hg38", "id": "chr10:g.43111444C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199572076", "rs": 199572076 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 43111444, "referenceAllele": "C", "start": 43111443 } ], "hgvs": [ "NC_000010.11:g.43111444C>T", "CM000672.2:g.43111444C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 43606892, "referenceAllele": "C", "start": 43606891 } ], "hgvs": [ "NC_000010.10:g.43606892C>T", "CM000672.1:g.43606892C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 42926898, "referenceAllele": "C", "start": 42926897 } ], "hgvs": [ "NC_000010.9:g.42926898C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 39376, "referenceAllele": "C", "start": 39375 } ], "hgvs": [ "NG_007489.1:g.39376C>T", "LRG_518:g.39376C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000611" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.5:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000480088.2:p.Leu369Phe", "hgvsWellDefined": "ENSP00000480088.2:p.Leu369Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS826472" }, { "coordinates": [ { "allele": "T", "end": 1075, "referenceAllele": "C", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683007.1:n.1075C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827994" }, { "coordinates": [ { "allele": "T", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683872.1:n.262C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828839" }, { "coordinates": [ { "allele": "T", "end": 1691, "referenceAllele": "C", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.6:c.1501C>T" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Leu501Phe", "hgvsWellDefined": "ENSP00000344798.4:p.Leu501Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS747868" }, { "coordinates": [ { "allele": "T", "end": 1691, "referenceAllele": "C", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.8:c.1501C>T" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Leu501Phe", "hgvsWellDefined": "ENSP00000347942.3:p.Leu501Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS748710", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1501C>T" }, "RefSeq": { "hgvs": "NM_020975.6:c.1501C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Leu501Phe" }, "RefSeq": { "hgvs": "NP_066124.1:p.Leu501Phe" } } } }, { "coordinates": [ { "allele": "T", "end": 1058, "referenceAllele": "C", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000671844.1:c.*95C>T" ], "proteinEffect": { "hgvs": "ENSP00000500541.1:n.*95C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773184" }, { "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000672389.1:c.*95C>T" ], "proteinEffect": { "hgvs": "ENSP00000500252.1:n.*95C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773367" }, { "coordinates": [ { "allele": "T", "end": 1681, "referenceAllele": "C", "start": 1680 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.5:c.1501C>T" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Leu501Phe", "hgvsWellDefined": "ENSP00000344798.4:p.Leu501Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS247408" }, { "coordinates": [ { "allele": "T", "end": 1733, "referenceAllele": "C", "start": 1732 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.7:c.1501C>T" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Leu501Phe", "hgvsWellDefined": "ENSP00000347942.3:p.Leu501Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS247251" }, { "coordinates": [ { "allele": "T", "end": 258, "endIntronDirection": "-", "endIntronOffset": 654, "referenceAllele": "C", "start": 258, "startIntronDirection": "-", "startIntronOffset": 655 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000498820.5:c.74-655C>T" ], "proteinEffect": { "hgvs": "ENSP00000419080.1:n.74-655C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247185" }, { "coordinates": [ { "allele": "T", "end": 1479, "endIntronDirection": "+", "endIntronOffset": 212, "referenceAllele": "C", "start": 1479, "startIntronDirection": "+", "startIntronOffset": 211 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.4:c.1289+212C>T" ], "proteinEffect": { "hgvs": "ENSP00000480088.1:n.1289+212C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS402558" }, { "@id": "http://reg.genome.network/allele/PA2829941114", "coordinates": [ { "allele": "T", "end": 1691, "referenceAllele": "C", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.4:c.1501C>T", "LRG_518t2:c.1501C>T" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Leu501Phe", "hgvsWellDefined": "NP_065681.1:p.Leu501Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS036456" }, { "@id": "http://reg.genome.network/allele/PA658670442", "coordinates": [ { "allele": "T", "end": 1691, "referenceAllele": "C", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.4:c.1501C>T", "LRG_518t1:c.1501C>T" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Leu501Phe", "hgvsWellDefined": "NP_066124.1:p.Leu501Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS036733" }, { "coordinates": [ { "allele": "T", "end": 1733, "referenceAllele": "C", "start": 1732 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "XM_011540027.1:c.1501C>T" ], "proteinEffect": { "hgvs": "XP_011538329.1:p.Leu501Phe", "hgvsWellDefined": "XP_011538329.1:p.Leu501Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS106977" }, { "@id": "http://reg.genome.network/allele/PA2828047020", "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_001355216.1:c.739C>T" ], "proteinEffect": { "hgvs": "NP_001342145.1:p.Leu247Phe", "hgvsWellDefined": "NP_001342145.1:p.Leu247Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS522845" }, { "@id": "http://reg.genome.network/allele/PA2829941114", "coordinates": [ { "allele": "T", "end": 1733, "referenceAllele": "C", "start": 1732 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.5:c.1501C>T" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Leu501Phe", "hgvsWellDefined": "NP_065681.1:p.Leu501Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS525983" }, { "@id": "http://reg.genome.network/allele/PA658670442", "coordinates": [ { "allele": "T", "end": 1733, "referenceAllele": "C", "start": 1732 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.5:c.1501C>T" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Leu501Phe", "hgvsWellDefined": "NP_066124.1:p.Leu501Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS526025" }, { "@id": "http://reg.genome.network/allele/PA658670442", "coordinates": [ { "allele": "T", "end": 1691, "referenceAllele": "C", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.6:c.1501C>T" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Leu501Phe", "hgvsWellDefined": "NP_066124.1:p.Leu501Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS670171", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1501C>T" }, "RefSeq": { "hgvs": "NM_020975.6:c.1501C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Leu501Phe" }, "RefSeq": { "hgvs": "NP_066124.1:p.Leu501Phe" } } } }, { "@id": "http://reg.genome.network/allele/PA2829941114", "coordinates": [ { "allele": "T", "end": 1691, "referenceAllele": "C", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.6:c.1501C>T" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Leu501Phe", "hgvsWellDefined": "NP_065681.1:p.Leu501Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS728447" } ], "type": "nucleotide" }