{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA376549044", "communityStandardTitle": [ "NM_020975.6(RET):c.1330T>C (p.Ser444Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2014527[alleleid]", "alleleId": 2014527, "preferredName": "NM_020975.6(RET):c.1330T>C (p.Ser444Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1953093", "RCV": [ "RCV002700147" ], "variationId": 1953093 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43606721T>C?assembly=hg19", "id": "chr10:g.43606721T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43111273T>C?assembly=hg38", "id": "chr10:g.43111273T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2132767932", "rs": 2132767932 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "C", "end": 43111273, "referenceAllele": "T", "start": 43111272 } ], "hgvs": [ "NC_000010.11:g.43111273T>C", "CM000672.2:g.43111273T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "C", "end": 43606721, "referenceAllele": "T", "start": 43606720 } ], "hgvs": [ "NC_000010.10:g.43606721T>C", "CM000672.1:g.43606721T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "C", "end": 42926727, "referenceAllele": "T", "start": 42926726 } ], "hgvs": [ "NC_000010.9:g.42926727T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "C", "end": 39205, "referenceAllele": "T", "start": 39204 } ], "hgvs": [ "NG_007489.1:g.39205T>C", "LRG_518:g.39205T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000611" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1107, "referenceAllele": "T", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.5:c.934T>C" ], "proteinEffect": { "hgvs": "ENSP00000480088.2:p.Ser312Pro", "hgvsWellDefined": "ENSP00000480088.2:p.Ser312Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS826472" }, { "coordinates": [ { "allele": "C", "end": 904, "referenceAllele": "T", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683007.1:n.904T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827994" }, { "coordinates": [ { "allele": "C", "end": 91, "referenceAllele": "T", "start": 90 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683872.1:n.91T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828839" }, { "coordinates": [ { "allele": "C", "end": 1520, "referenceAllele": "T", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.6:c.1330T>C" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Ser444Pro", "hgvsWellDefined": "ENSP00000344798.4:p.Ser444Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS747868" }, { "coordinates": [ { "allele": "C", "end": 1520, "referenceAllele": "T", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.8:c.1330T>C" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Ser444Pro", "hgvsWellDefined": "ENSP00000347942.3:p.Ser444Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS748710", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1330T>C" }, "RefSeq": { "hgvs": "NM_020975.6:c.1330T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Ser444Pro" }, "RefSeq": { "hgvs": "NP_066124.1:p.Ser444Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 887, "referenceAllele": "T", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000671844.1:c.692T>C" ], "proteinEffect": { "hgvs": "ENSP00000500541.1:p.Phe231Ser", "hgvsWellDefined": "ENSP00000500541.1:p.Phe231Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS773184" }, { "coordinates": [ { "allele": "C", "end": 330, "referenceAllele": "T", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000672389.1:c.140T>C" ], "proteinEffect": { "hgvs": "ENSP00000500252.1:p.Phe47Ser", "hgvsWellDefined": "ENSP00000500252.1:p.Phe47Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS773367" }, { "coordinates": [ { "allele": "C", "end": 1510, "referenceAllele": "T", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.5:c.1330T>C" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Ser444Pro", "hgvsWellDefined": "ENSP00000344798.4:p.Ser444Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247408" }, { "coordinates": [ { "allele": "C", "end": 1562, "referenceAllele": "T", "start": 1561 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.7:c.1330T>C" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Ser444Pro", "hgvsWellDefined": "ENSP00000347942.3:p.Ser444Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247251" }, { "coordinates": [ { "allele": "C", "end": 258, "endIntronDirection": "-", "endIntronOffset": 825, "referenceAllele": "T", "start": 258, "startIntronDirection": "-", "startIntronOffset": 826 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000498820.5:c.74-826T>C" ], "proteinEffect": { "hgvs": "ENSP00000419080.1:n.74-826T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS247185" }, { "coordinates": [ { "allele": "C", "end": 1479, "endIntronDirection": "+", "endIntronOffset": 41, "referenceAllele": "T", "start": 1479, "startIntronDirection": "+", "startIntronOffset": 40 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.4:c.1289+41T>C" ], "proteinEffect": { "hgvs": "ENSP00000480088.1:n.1289+41T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS402558" }, { "@id": "http://reg.genome.network/allele/PA2829940769", "coordinates": [ { "allele": "C", "end": 1520, "referenceAllele": "T", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.4:c.1330T>C", "LRG_518t2:c.1330T>C" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Ser444Pro", "hgvsWellDefined": "NP_065681.1:p.Ser444Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS036456" }, { "@id": "http://reg.genome.network/allele/PA2580441268", "coordinates": [ { "allele": "C", "end": 1520, "referenceAllele": "T", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.4:c.1330T>C", "LRG_518t1:c.1330T>C" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Ser444Pro", "hgvsWellDefined": "NP_066124.1:p.Ser444Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS036733" }, { "coordinates": [ { "allele": "C", "end": 1562, "referenceAllele": "T", "start": 1561 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "XM_011540027.1:c.1330T>C" ], "proteinEffect": { "hgvs": "XP_011538329.1:p.Ser444Pro", "hgvsWellDefined": "XP_011538329.1:p.Ser444Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS106977" }, { "@id": "http://reg.genome.network/allele/PA2828046710", "coordinates": [ { "allele": "C", "end": 925, "referenceAllele": "T", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_001355216.1:c.568T>C" ], "proteinEffect": { "hgvs": "NP_001342145.1:p.Ser190Pro", "hgvsWellDefined": "NP_001342145.1:p.Ser190Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522845" }, { "@id": "http://reg.genome.network/allele/PA2829940769", "coordinates": [ { "allele": "C", "end": 1562, "referenceAllele": "T", "start": 1561 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.5:c.1330T>C" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Ser444Pro", "hgvsWellDefined": "NP_065681.1:p.Ser444Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS525983" }, { "@id": "http://reg.genome.network/allele/PA2580441268", "coordinates": [ { "allele": "C", "end": 1562, "referenceAllele": "T", "start": 1561 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.5:c.1330T>C" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Ser444Pro", "hgvsWellDefined": "NP_066124.1:p.Ser444Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS526025" }, { "@id": "http://reg.genome.network/allele/PA2580441268", "coordinates": [ { "allele": "C", "end": 1520, "referenceAllele": "T", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.6:c.1330T>C" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Ser444Pro", "hgvsWellDefined": "NP_066124.1:p.Ser444Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS670171", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1330T>C" }, "RefSeq": { "hgvs": "NM_020975.6:c.1330T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Ser444Pro" }, "RefSeq": { "hgvs": "NP_066124.1:p.Ser444Pro" } } } }, { "@id": "http://reg.genome.network/allele/PA2829940769", "coordinates": [ { "allele": "C", "end": 1520, "referenceAllele": "T", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.6:c.1330T>C" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Ser444Pro", "hgvsWellDefined": "NP_065681.1:p.Ser444Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS728447" } ], "type": "nucleotide" }