{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA321485", "communityStandardTitle": [ "NM_001953.5(TYMP):c.895C>A (p.Pro299Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=211977[alleleid]", "alleleId": 211977, "preferredName": "NM_001953.5(TYMP):c.895C>A (p.Pro299Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/215337", "RCV": [ "RCV000197047" ], "variationId": 215337 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50965038G>T?assembly=hg19", "id": "chr22:g.50965038G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50526609G>T?assembly=hg38", "id": "chr22:g.50526609G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/863224252", "rs": 863224252 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-50526609-G-T?dataset=gnomad_r4", "id": "22-50526609-G-T", "variant": "22:50526609 G / T" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 50526609, "referenceAllele": "G", "start": 50526608 } ], "hgvs": [ "NC_000022.11:g.50526609G>T", "CM000684.2:g.50526609G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 50965038, "referenceAllele": "G", "start": 50965037 } ], "hgvs": [ "NC_000022.10:g.50965038G>T", "CM000684.1:g.50965038G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 49311904, "referenceAllele": "G", "start": 49311903 } ], "hgvs": [ "NC_000022.9:g.49311904G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "A", "end": 8477, "referenceAllele": "C", "start": 8476 } ], "hgvs": [ "NG_011860.1:g.8477C>A", "LRG_727:g.8477C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002037" }, { "coordinates": [ { "allele": "A", "end": 4831, "referenceAllele": "C", "start": 4830 } ], "hgvs": [ "NG_016235.1:g.4831C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003035" }, { "coordinates": [ { "allele": "T", "end": 23394, "referenceAllele": "G", "start": 23393 } ], "hgvs": [ "NG_021419.1:g.23394G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003644" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1014, "referenceAllele": "C", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000252029.8:c.895C>A" ], "proteinEffect": { "hgvs": "ENSP00000252029.3:p.Pro299Thr", "hgvsWellDefined": "ENSP00000252029.3:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS741506", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252029.8:c.895C>A" }, "RefSeq": { "hgvs": "NM_001953.5:c.895C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252029.3:p.Pro299Thr" }, "RefSeq": { "hgvs": "NP_001944.1:p.Pro299Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395680.6:c.895C>A" ], "proteinEffect": { "hgvs": "ENSP00000379037.1:p.Pro299Thr", "hgvsWellDefined": "ENSP00000379037.1:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS753424" }, { "coordinates": [ { "allele": "A", "end": 1014, "referenceAllele": "C", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395681.6:c.895C>A" ], "proteinEffect": { "hgvs": "ENSP00000379038.1:p.Pro299Thr", "hgvsWellDefined": "ENSP00000379038.1:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS753425" }, { "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "C", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000650719.1:c.776C>A" ], "proteinEffect": { "hgvs": "ENSP00000498276.1:p.Pro259His", "hgvsWellDefined": "ENSP00000498276.1:p.Pro259His" }, "referenceSequence": "http://reg.genome.network/refseq/RS771271" }, { "coordinates": [ { "allele": "A", "end": 487, "referenceAllele": "C", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000651401.1:c.379C>A" ], "proteinEffect": { "hgvs": "ENSP00000499115.1:p.Pro127Thr", "hgvsWellDefined": "ENSP00000499115.1:p.Pro127Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS771647" }, { "coordinates": [ { "allele": "A", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000652401.1:c.396C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772190" }, { "coordinates": [ { "allele": "A", "end": 1058, "referenceAllele": "C", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000252029.7:c.895C>A" ], "proteinEffect": { "hgvs": "ENSP00000252029.3:p.Pro299Thr", "hgvsWellDefined": "ENSP00000252029.3:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS249780" }, { "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395678.7:c.895C>A" ], "proteinEffect": { "hgvs": "ENSP00000379036.3:p.Pro299Thr", "hgvsWellDefined": "ENSP00000379036.3:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS276828" }, { "coordinates": [ { "allele": "A", "end": 1036, "referenceAllele": "C", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395680.5:c.895C>A" ], "proteinEffect": { "hgvs": "ENSP00000379037.1:p.Pro299Thr", "hgvsWellDefined": "ENSP00000379037.1:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS276830" }, { "coordinates": [ { "allele": "A", "end": 1017, "referenceAllele": "C", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395681.5:c.895C>A" ], "proteinEffect": { "hgvs": "ENSP00000379038.1:p.Pro299Thr", "hgvsWellDefined": "ENSP00000379038.1:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS276831" }, { "coordinates": [ { "allele": "A", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000425169.1:c.796C>A" ], "proteinEffect": { "hgvs": "ENSP00000395875.1:p.Pro266Thr", "hgvsWellDefined": "ENSP00000395875.1:p.Pro266Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS288630" }, { "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "C", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000476284.1:n.901C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317377" }, { "coordinates": [ { "allele": "A", "end": 1182, "referenceAllele": "C", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000487577.5:n.1182C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326112" }, { "@id": "http://reg.genome.network/allele/PA2825567933", "coordinates": [ { "allele": "A", "end": 1099, "referenceAllele": "C", "start": 1098 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113755.2:c.895C>A" ], "proteinEffect": { "hgvs": "NP_001107227.1:p.Pro299Thr", "hgvsWellDefined": "NP_001107227.1:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011278" }, { "@id": "http://reg.genome.network/allele/PA2825568480", "coordinates": [ { "allele": "A", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.2:c.895C>A" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Pro299Thr", "hgvsWellDefined": "NP_001107228.1:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011279" }, { "@id": "http://reg.genome.network/allele/PA321488", "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "C", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001257988.1:c.895C>A", "LRG_727t1:c.895C>A" ], "proteinEffect": { "hgvs": "NP_001244917.1:p.Pro299Thr", "hgvsWellDefined": "NP_001244917.1:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS019659" }, { "@id": "http://reg.genome.network/allele/PA321489", "coordinates": [ { "allele": "A", "end": 1087, "referenceAllele": "C", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001257989.1:c.895C>A", "LRG_727t2:c.895C>A" ], "proteinEffect": { "hgvs": "NP_001244918.1:p.Pro299Thr", "hgvsWellDefined": "NP_001244918.1:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS019660" }, { "@id": "http://reg.genome.network/allele/PA321490", "coordinates": [ { "allele": "A", "end": 1087, "referenceAllele": "C", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.4:c.895C>A" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Pro299Thr", "hgvsWellDefined": "NP_001944.1:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS027279" }, { "@id": "http://reg.genome.network/allele/PA2825567933", "coordinates": [ { "allele": "A", "end": 1026, "referenceAllele": "C", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113755.3:c.895C>A" ], "proteinEffect": { "hgvs": "NP_001107227.1:p.Pro299Thr", "hgvsWellDefined": "NP_001107227.1:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676724" }, { "@id": "http://reg.genome.network/allele/PA2825568480", "coordinates": [ { "allele": "A", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.3:c.895C>A" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Pro299Thr", "hgvsWellDefined": "NP_001107228.1:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676725" }, { "@id": "http://reg.genome.network/allele/PA321490", "coordinates": [ { "allele": "A", "end": 1014, "referenceAllele": "C", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.5:c.895C>A" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Pro299Thr", "hgvsWellDefined": "NP_001944.1:p.Pro299Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS695409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252029.8:c.895C>A" }, "RefSeq": { "hgvs": "NM_001953.5:c.895C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252029.3:p.Pro299Thr" }, "RefSeq": { "hgvs": "NP_001944.1:p.Pro299Thr" } } } } ], "type": "nucleotide" }