{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16616789", "communityStandardTitle": [ "NM_001953.5(TYMP):c.865G>A (p.Glu289Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224769[alleleid]", "alleleId": 224769, "preferredName": "NM_001953.5(TYMP):c.865G>A (p.Glu289Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/223044", "RCV": [ "RCV000208626", "RCV003556265" ], "variationId": 223044 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50965068C>T?assembly=hg19", "id": "chr22:g.50965068C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50526639C>T?assembly=hg38", "id": "chr22:g.50526639C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/946234163", "rs": 946234163 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-50965068-C-T?dataset=gnomad_r2_1", "id": "22-50965068-C-T", "variant": "22:50965068 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-50526639-C-T?dataset=gnomad_r4", "id": "22-50526639-C-T", "variant": "22:50526639 C / T" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 50526639, "referenceAllele": "C", "start": 50526638 } ], "hgvs": [ "NC_000022.11:g.50526639C>T", "CM000684.2:g.50526639C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 50965068, "referenceAllele": "C", "start": 50965067 } ], "hgvs": [ "NC_000022.10:g.50965068C>T", "CM000684.1:g.50965068C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 49311934, "referenceAllele": "C", "start": 49311933 } ], "hgvs": [ "NC_000022.9:g.49311934C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "A", "end": 8447, "referenceAllele": "G", "start": 8446 } ], "hgvs": [ "NG_011860.1:g.8447G>A", "LRG_727:g.8447G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002037" }, { "coordinates": [ { "allele": "A", "end": 4801, "referenceAllele": "G", "start": 4800 } ], "hgvs": [ "NG_016235.1:g.4801G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003035" }, { "coordinates": [ { "allele": "T", "end": 23424, "referenceAllele": "C", "start": 23423 } ], "hgvs": [ "NG_021419.1:g.23424C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003644" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 984, "referenceAllele": "G", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000252029.8:c.865G>A" ], "proteinEffect": { "hgvs": "ENSP00000252029.3:p.Glu289Lys", "hgvsWellDefined": "ENSP00000252029.3:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS741506", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252029.8:c.865G>A" }, "RefSeq": { "hgvs": "NM_001953.5:c.865G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252029.3:p.Glu289Lys" }, "RefSeq": { "hgvs": "NP_001944.1:p.Glu289Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1019, "referenceAllele": "G", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395680.6:c.865G>A" ], "proteinEffect": { "hgvs": "ENSP00000379037.1:p.Glu289Lys", "hgvsWellDefined": "ENSP00000379037.1:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS753424" }, { "coordinates": [ { "allele": "A", "end": 984, "referenceAllele": "G", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395681.6:c.865G>A" ], "proteinEffect": { "hgvs": "ENSP00000379038.1:p.Glu289Lys", "hgvsWellDefined": "ENSP00000379038.1:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS753425" }, { "coordinates": [ { "allele": "A", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000650719.1:c.746G>A" ], "proteinEffect": { "hgvs": "ENSP00000498276.1:p.Gly249Glu", "hgvsWellDefined": "ENSP00000498276.1:p.Gly249Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS771271" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000651401.1:c.349G>A" ], "proteinEffect": { "hgvs": "ENSP00000499115.1:p.Glu117Lys", "hgvsWellDefined": "ENSP00000499115.1:p.Glu117Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS771647" }, { "coordinates": [ { "allele": "A", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000652401.1:c.366G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772190" }, { "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "G", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000252029.7:c.865G>A" ], "proteinEffect": { "hgvs": "ENSP00000252029.3:p.Glu289Lys", "hgvsWellDefined": "ENSP00000252029.3:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS249780" }, { "coordinates": [ { "allele": "A", "end": 1016, "referenceAllele": "G", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395678.7:c.865G>A" ], "proteinEffect": { "hgvs": "ENSP00000379036.3:p.Glu289Lys", "hgvsWellDefined": "ENSP00000379036.3:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS276828" }, { "coordinates": [ { "allele": "A", "end": 1006, "referenceAllele": "G", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395680.5:c.865G>A" ], "proteinEffect": { "hgvs": "ENSP00000379037.1:p.Glu289Lys", "hgvsWellDefined": "ENSP00000379037.1:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS276830" }, { "coordinates": [ { "allele": "A", "end": 987, "referenceAllele": "G", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395681.5:c.865G>A" ], "proteinEffect": { "hgvs": "ENSP00000379038.1:p.Glu289Lys", "hgvsWellDefined": "ENSP00000379038.1:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS276831" }, { "coordinates": [ { "allele": "A", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000425169.1:c.766G>A" ], "proteinEffect": { "hgvs": "ENSP00000395875.1:p.Glu256Lys", "hgvsWellDefined": "ENSP00000395875.1:p.Glu256Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS288630" }, { "coordinates": [ { "allele": "A", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000476284.1:n.871G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317377" }, { "coordinates": [ { "allele": "A", "end": 1152, "referenceAllele": "G", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000487577.5:n.1152G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326112" }, { "@id": "http://reg.genome.network/allele/PA2825567924", "coordinates": [ { "allele": "A", "end": 1069, "referenceAllele": "G", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113755.2:c.865G>A" ], "proteinEffect": { "hgvs": "NP_001107227.1:p.Glu289Lys", "hgvsWellDefined": "NP_001107227.1:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011278" }, { "@id": "http://reg.genome.network/allele/PA2825568470", "coordinates": [ { "allele": "A", "end": 1241, "referenceAllele": "G", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.2:c.865G>A" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Glu289Lys", "hgvsWellDefined": "NP_001107228.1:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011279" }, { "@id": "http://reg.genome.network/allele/PA2826449539", "coordinates": [ { "allele": "A", "end": 1092, "referenceAllele": "G", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001257988.1:c.865G>A", "LRG_727t1:c.865G>A" ], "proteinEffect": { "hgvs": "NP_001244917.1:p.Glu289Lys", "hgvsWellDefined": "NP_001244917.1:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS019659" }, { "@id": "http://reg.genome.network/allele/PA2826450050", "coordinates": [ { "allele": "A", "end": 1057, "referenceAllele": "G", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001257989.1:c.865G>A", "LRG_727t2:c.865G>A" ], "proteinEffect": { "hgvs": "NP_001244918.1:p.Glu289Lys", "hgvsWellDefined": "NP_001244918.1:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS019660" }, { "@id": "http://reg.genome.network/allele/PA645407266", "coordinates": [ { "allele": "A", "end": 1057, "referenceAllele": "G", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.4:c.865G>A" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Glu289Lys", "hgvsWellDefined": "NP_001944.1:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS027279" }, { "@id": "http://reg.genome.network/allele/PA2825567924", "coordinates": [ { "allele": "A", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113755.3:c.865G>A" ], "proteinEffect": { "hgvs": "NP_001107227.1:p.Glu289Lys", "hgvsWellDefined": "NP_001107227.1:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676724" }, { "@id": "http://reg.genome.network/allele/PA2825568470", "coordinates": [ { "allele": "A", "end": 1168, "referenceAllele": "G", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.3:c.865G>A" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Glu289Lys", "hgvsWellDefined": "NP_001107228.1:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676725" }, { "@id": "http://reg.genome.network/allele/PA645407266", "coordinates": [ { "allele": "A", "end": 984, "referenceAllele": "G", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.5:c.865G>A" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Glu289Lys", "hgvsWellDefined": "NP_001944.1:p.Glu289Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS695409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252029.8:c.865G>A" }, "RefSeq": { "hgvs": "NM_001953.5:c.865G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252029.3:p.Glu289Lys" }, "RefSeq": { "hgvs": "NP_001944.1:p.Glu289Lys" } } } } ], "type": "nucleotide" }