{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA007667", "communityStandardTitle": [ "NM_020975.6(RET):c.1597G>A (p.Gly533Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36228[alleleid]", "alleleId": 36228, "preferredName": "NM_020975.6(RET):c.1597G>A (p.Gly533Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/24887", "RCV": [ "RCV000411509", "RCV000409959", "RCV000465806", "RCV000573056", "RCV001102551", "RCV001102550", "RCV001107801", "RCV001107802" ], "variationId": 24887 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-43607621-G-A", "id": "10-43607621-G-A", "variant": "10:43607621 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43607621G>A?assembly=hg19", "id": "chr10:g.43607621G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43112173G>A?assembly=hg38", "id": "chr10:g.43112173G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/75873440", "rs": 75873440 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-43607621-G-A?dataset=gnomad_r2_1", "id": "10-43607621-G-A", "variant": "10:43607621 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-43112173-G-A?dataset=gnomad_r3", "id": "10-43112173-G-A", "variant": "10:43112173 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-43112173-G-A?dataset=gnomad_r4", "id": "10-43112173-G-A", "variant": "10:43112173 G / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 43112173, "referenceAllele": "G", "start": 43112172 } ], "hgvs": [ "NC_000010.11:g.43112173G>A", "CM000672.2:g.43112173G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 43607621, "referenceAllele": "G", "start": 43607620 } ], "hgvs": [ "NC_000010.10:g.43607621G>A", "CM000672.1:g.43607621G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 42927627, "referenceAllele": "G", "start": 42927626 } ], "hgvs": [ "NC_000010.9:g.42927627G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 40105, "referenceAllele": "G", "start": 40104 } ], "hgvs": [ "NG_007489.1:g.40105G>A", "LRG_518:g.40105G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000611" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1374, "referenceAllele": "G", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.5:c.1201G>A" ], "proteinEffect": { "hgvs": "ENSP00000480088.2:p.Gly401Ser", "hgvsWellDefined": "ENSP00000480088.2:p.Gly401Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS826472" }, { "coordinates": [ { "allele": "A", "end": 1171, "referenceAllele": "G", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683007.1:n.1171G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827994" }, { "coordinates": [ { "allele": "A", "end": 358, "referenceAllele": "G", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683872.1:n.358G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828839" }, { "coordinates": [ { "allele": "A", "end": 1787, "referenceAllele": "G", "start": 1786 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.6:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Gly533Ser", "hgvsWellDefined": "ENSP00000344798.4:p.Gly533Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS747868" }, { "coordinates": [ { "allele": "A", "end": 1787, "referenceAllele": "G", "start": 1786 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.8:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Gly533Ser", "hgvsWellDefined": "ENSP00000347942.3:p.Gly533Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS748710", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1597G>A" }, "RefSeq": { "hgvs": "NM_020975.6:c.1597G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Gly533Ser" }, "RefSeq": { "hgvs": "NP_066124.1:p.Gly533Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 1154, "referenceAllele": "G", "start": 1153 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000671844.1:c.*191G>A" ], "proteinEffect": { "hgvs": "ENSP00000500541.1:n.*191G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773184" }, { "coordinates": [ { "allele": "A", "end": 597, "referenceAllele": "G", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000672389.1:c.*191G>A" ], "proteinEffect": { "hgvs": "ENSP00000500252.1:n.*191G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773367" }, { "coordinates": [ { "allele": "A", "end": 1777, "referenceAllele": "G", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.5:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Gly533Ser", "hgvsWellDefined": "ENSP00000344798.4:p.Gly533Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247408" }, { "coordinates": [ { "allele": "A", "end": 1829, "referenceAllele": "G", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.7:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Gly533Ser", "hgvsWellDefined": "ENSP00000347942.3:p.Gly533Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247251" }, { "coordinates": [ { "allele": "A", "end": 333, "referenceAllele": "G", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000498820.5:c.148G>A" ], "proteinEffect": { "hgvs": "ENSP00000419080.1:p.Gly50Ser", "hgvsWellDefined": "ENSP00000419080.1:p.Gly50Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247185" }, { "coordinates": [ { "allele": "A", "end": 1479, "endIntronDirection": "+", "endIntronOffset": 941, "referenceAllele": "G", "start": 1479, "startIntronDirection": "+", "startIntronOffset": 940 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.4:c.1289+941G>A" ], "proteinEffect": { "hgvs": "ENSP00000480088.1:n.1289+941G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS402558" }, { "@id": "http://reg.genome.network/allele/PA128127", "coordinates": [ { "allele": "A", "end": 1787, "referenceAllele": "G", "start": 1786 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.4:c.1597G>A", "LRG_518t2:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Gly533Ser", "hgvsWellDefined": "NP_065681.1:p.Gly533Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS036456" }, { "@id": "http://reg.genome.network/allele/PA128128", "coordinates": [ { "allele": "A", "end": 1787, "referenceAllele": "G", "start": 1786 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.4:c.1597G>A", "LRG_518t1:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Gly533Ser", "hgvsWellDefined": "NP_066124.1:p.Gly533Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS036733" }, { "coordinates": [ { "allele": "A", "end": 1829, "referenceAllele": "G", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "XM_011540027.1:c.1597G>A" ], "proteinEffect": { "hgvs": "XP_011538329.1:p.Gly533Ser", "hgvsWellDefined": "XP_011538329.1:p.Gly533Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS106977" }, { "@id": "http://reg.genome.network/allele/PA2828047191", "coordinates": [ { "allele": "A", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_001355216.1:c.835G>A" ], "proteinEffect": { "hgvs": "NP_001342145.1:p.Gly279Ser", "hgvsWellDefined": "NP_001342145.1:p.Gly279Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522845" }, { "@id": "http://reg.genome.network/allele/PA128127", "coordinates": [ { "allele": "A", "end": 1829, "referenceAllele": "G", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.5:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Gly533Ser", "hgvsWellDefined": "NP_065681.1:p.Gly533Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS525983" }, { "@id": "http://reg.genome.network/allele/PA128128", "coordinates": [ { "allele": "A", "end": 1829, "referenceAllele": "G", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.5:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Gly533Ser", "hgvsWellDefined": "NP_066124.1:p.Gly533Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS526025" }, { "@id": "http://reg.genome.network/allele/PA128128", "coordinates": [ { "allele": "A", "end": 1787, "referenceAllele": "G", "start": 1786 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.6:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Gly533Ser", "hgvsWellDefined": "NP_066124.1:p.Gly533Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS670171", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1597G>A" }, "RefSeq": { "hgvs": "NM_020975.6:c.1597G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Gly533Ser" }, "RefSeq": { "hgvs": "NP_066124.1:p.Gly533Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA128127", "coordinates": [ { "allele": "A", "end": 1787, "referenceAllele": "G", "start": 1786 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.6:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Gly533Ser", "hgvsWellDefined": "NP_065681.1:p.Gly533Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS728447" } ], "type": "nucleotide" }