{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA033292", "communityStandardTitle": [ "NM_020975.6(RET):c.1363G>A (p.Val455Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=809922[alleleid]", "alleleId": 809922, "preferredName": "NM_020975.6(RET):c.1363G>A (p.Val455Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/818987", "RCV": [ "RCV001011134", "RCV001070712", "RCV002481819" ], "variationId": 818987 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-43606754-G-A", "id": "10-43606754-G-A", "variant": "10:43606754 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43606754G>A?assembly=hg19", "id": "chr10:g.43606754G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43111306G>A?assembly=hg38", "id": "chr10:g.43111306G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/145966037", "rs": 145966037 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-43606754-G-A?dataset=gnomad_r2_1", "id": "10-43606754-G-A", "variant": "10:43606754 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-43111306-G-A?dataset=gnomad_r3", "id": "10-43111306-G-A", "variant": "10:43111306 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-43111306-G-A?dataset=gnomad_r4", "id": "10-43111306-G-A", "variant": "10:43111306 G / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 43111306, "referenceAllele": "G", "start": 43111305 } ], "hgvs": [ "NC_000010.11:g.43111306G>A", "CM000672.2:g.43111306G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 43606754, "referenceAllele": "G", "start": 43606753 } ], "hgvs": [ "NC_000010.10:g.43606754G>A", "CM000672.1:g.43606754G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 42926760, "referenceAllele": "G", "start": 42926759 } ], "hgvs": [ "NC_000010.9:g.42926760G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 39238, "referenceAllele": "G", "start": 39237 } ], "hgvs": [ "NG_007489.1:g.39238G>A", "LRG_518:g.39238G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000611" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1140, "referenceAllele": "G", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.5:c.967G>A" ], "proteinEffect": { "hgvs": "ENSP00000480088.2:p.Val323Ile", "hgvsWellDefined": "ENSP00000480088.2:p.Val323Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS826472" }, { "coordinates": [ { "allele": "A", "end": 937, "referenceAllele": "G", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683007.1:n.937G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827994" }, { "coordinates": [ { "allele": "A", "end": 124, "referenceAllele": "G", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683872.1:n.124G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828839" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.6:c.1363G>A" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Val455Ile", "hgvsWellDefined": "ENSP00000344798.4:p.Val455Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS747868" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.8:c.1363G>A" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Val455Ile", "hgvsWellDefined": "ENSP00000347942.3:p.Val455Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS748710", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1363G>A" }, "RefSeq": { "hgvs": "NM_020975.6:c.1363G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Val455Ile" }, "RefSeq": { "hgvs": "NP_066124.1:p.Val455Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 920, "referenceAllele": "G", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000671844.1:c.725G>A" ], "proteinEffect": { "hgvs": "ENSP00000500541.1:p.Gly242Asp", "hgvsWellDefined": "ENSP00000500541.1:p.Gly242Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS773184" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000672389.1:c.173G>A" ], "proteinEffect": { "hgvs": "ENSP00000500252.1:p.Gly58Asp", "hgvsWellDefined": "ENSP00000500252.1:p.Gly58Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS773367" }, { "coordinates": [ { "allele": "A", "end": 1543, "referenceAllele": "G", "start": 1542 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.5:c.1363G>A" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Val455Ile", "hgvsWellDefined": "ENSP00000344798.4:p.Val455Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS247408" }, { "coordinates": [ { "allele": "A", "end": 1595, "referenceAllele": "G", "start": 1594 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.7:c.1363G>A" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Val455Ile", "hgvsWellDefined": "ENSP00000347942.3:p.Val455Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS247251" }, { "coordinates": [ { "allele": "A", "end": 258, "endIntronDirection": "-", "endIntronOffset": 792, "referenceAllele": "G", "start": 258, "startIntronDirection": "-", "startIntronOffset": 793 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000498820.5:c.74-793G>A" ], "proteinEffect": { "hgvs": "ENSP00000419080.1:n.74-793G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247185" }, { "coordinates": [ { "allele": "A", "end": 1479, "endIntronDirection": "+", "endIntronOffset": 74, "referenceAllele": "G", "start": 1479, "startIntronDirection": "+", "startIntronOffset": 73 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.4:c.1289+74G>A" ], "proteinEffect": { "hgvs": "ENSP00000480088.1:n.1289+74G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS402558" }, { "@id": "http://reg.genome.network/allele/PA2829940811", "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.4:c.1363G>A", "LRG_518t2:c.1363G>A" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Val455Ile", "hgvsWellDefined": "NP_065681.1:p.Val455Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS036456" }, { "@id": "http://reg.genome.network/allele/PA916054478", "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.4:c.1363G>A", "LRG_518t1:c.1363G>A" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Val455Ile", "hgvsWellDefined": "NP_066124.1:p.Val455Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS036733" }, { "coordinates": [ { "allele": "A", "end": 1595, "referenceAllele": "G", "start": 1594 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "XM_011540027.1:c.1363G>A" ], "proteinEffect": { "hgvs": "XP_011538329.1:p.Val455Ile", "hgvsWellDefined": "XP_011538329.1:p.Val455Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS106977" }, { "@id": "http://reg.genome.network/allele/PA2828046772", "coordinates": [ { "allele": "A", "end": 958, "referenceAllele": "G", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_001355216.1:c.601G>A" ], "proteinEffect": { "hgvs": "NP_001342145.1:p.Val201Ile", "hgvsWellDefined": "NP_001342145.1:p.Val201Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS522845" }, { "@id": "http://reg.genome.network/allele/PA2829940811", "coordinates": [ { "allele": "A", "end": 1595, "referenceAllele": "G", "start": 1594 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.5:c.1363G>A" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Val455Ile", "hgvsWellDefined": "NP_065681.1:p.Val455Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS525983" }, { "@id": "http://reg.genome.network/allele/PA916054478", "coordinates": [ { "allele": "A", "end": 1595, "referenceAllele": "G", "start": 1594 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.5:c.1363G>A" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Val455Ile", "hgvsWellDefined": "NP_066124.1:p.Val455Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS526025" }, { "@id": "http://reg.genome.network/allele/PA916054478", "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.6:c.1363G>A" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Val455Ile", "hgvsWellDefined": "NP_066124.1:p.Val455Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS670171", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.1363G>A" }, "RefSeq": { "hgvs": "NM_020975.6:c.1363G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Val455Ile" }, "RefSeq": { "hgvs": "NP_066124.1:p.Val455Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2829940811", "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.6:c.1363G>A" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Val455Ile", "hgvsWellDefined": "NP_065681.1:p.Val455Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS728447" } ], "type": "nucleotide" }