{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9965664", "communityStandardTitle": [ "NM_001283009.2(RTEL1):c.2936G>A (p.Arg979Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3092953[alleleid]", "alleleId": 3092953, "preferredName": "NM_001283009.2(RTEL1):c.2936G>A (p.Arg979Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2924715", "RCV": [ "RCV003788417" ], "variationId": 2924715 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/20-62324580-G-A", "id": "20-62324580-G-A", "variant": "20:62324580 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.62324580G>A?assembly=hg19", "id": "chr20:g.62324580G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.63693227G>A?assembly=hg38", "id": "chr20:g.63693227G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/574134304", "rs": 574134304 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-62324580-G-A?dataset=gnomad_r2_1", "id": "20-62324580-G-A", "variant": "20:62324580 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-63693227-G-A?dataset=gnomad_r3", "id": "20-63693227-G-A", "variant": "20:63693227 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-63693227-G-A?dataset=gnomad_r4", "id": "20-63693227-G-A", "variant": "20:63693227 G / A" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 63693227, "referenceAllele": "G", "start": 63693226 } ], "hgvs": [ "NC_000020.11:g.63693227G>A", "CM000682.2:g.63693227G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 62324580, "referenceAllele": "G", "start": 62324579 } ], "hgvs": [ "NC_000020.10:g.62324580G>A", "CM000682.1:g.62324580G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 61795024, "referenceAllele": "G", "start": 61795023 } ], "hgvs": [ "NC_000020.9:g.61795024G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "A", "end": 40418, "referenceAllele": "G", "start": 40417 } ], "hgvs": [ "NG_033901.1:g.40418G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005587" }, { "coordinates": [ { "allele": "A", "end": 1577, "referenceAllele": "G", "start": 1576 } ], "hgvs": [ "NG_046961.1:g.1577G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616498" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1683, "referenceAllele": "G", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000697815.1:n.1683G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS909003" }, { "coordinates": [ { "allele": "A", "end": 3333, "referenceAllele": "G", "start": 3332 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.7:c.3008G>A" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Arg1003Gln", "hgvsWellDefined": "ENSP00000424307.2:p.Arg1003Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS825539" }, { "coordinates": [ { "allele": "A", "end": 2980, "referenceAllele": "G", "start": 2979 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000318100.9:c.2267G>A" ], "proteinEffect": { "hgvs": "ENSP00000322287.5:p.Arg756Gln", "hgvsWellDefined": "ENSP00000322287.5:p.Arg756Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS746191" }, { "coordinates": [ { "allele": "A", "end": 3261, "referenceAllele": "G", "start": 3260 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.11:c.2936G>A" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Arg979Gln", "hgvsWellDefined": "ENSP00000353332.5:p.Arg979Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS749287", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.2936G>A" }, "RefSeq": { "hgvs": "NM_001283009.2:c.2936G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Arg979Gln" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Arg979Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 3258, "referenceAllele": "G", "start": 3257 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000482936.6:c.2936G>A" ], "proteinEffect": { "hgvs": "ENSP00000457868.2:p.Arg979Gln", "hgvsWellDefined": "ENSP00000457868.2:p.Arg979Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS757425" }, { "coordinates": [ { "allele": "A", "end": 2947, "referenceAllele": "G", "start": 2946 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000496281.2:n.2947G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757824" }, { "coordinates": [ { "allele": "A", "end": 3484, "referenceAllele": "G", "start": 3483 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000318100.8:c.2267G>A" ], "proteinEffect": { "hgvs": "ENSP00000322287.5:p.Arg756Gln", "hgvsWellDefined": "ENSP00000322287.5:p.Arg756Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS257483" }, { "coordinates": [ { "allele": "A", "end": 3261, "referenceAllele": "G", "start": 3260 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000360203.9:c.2936G>A" ], "proteinEffect": { "hgvs": "ENSP00000353332.5:p.Arg979Gln", "hgvsWellDefined": "ENSP00000353332.5:p.Arg979Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS265046" }, { "coordinates": [ { "allele": "A", "end": 916, "referenceAllele": "G", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000370003.2:c.671G>A" ], "proteinEffect": { "hgvs": "ENSP00000359020.1:p.Arg224Gln", "hgvsWellDefined": "ENSP00000359020.1:p.Arg224Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS267817" }, { "coordinates": [ { "allele": "A", "end": 3763, "referenceAllele": "G", "start": 3762 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000370018.7:c.2936G>A" ], "proteinEffect": { "hgvs": "ENSP00000359035.3:p.Arg979Gln", "hgvsWellDefined": "ENSP00000359035.3:p.Arg979Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS267828" }, { "coordinates": [ { "allele": "A", "end": 3021, "referenceAllele": "G", "start": 3020 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000480273.5:n.3021G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320458" }, { "coordinates": [ { "allele": "A", "end": 2936, "referenceAllele": "G", "start": 2935 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000482936.5:c.2936G>A" ], "proteinEffect": { "hgvs": "ENSP00000457868.1:p.Arg979Gln", "hgvsWellDefined": "ENSP00000457868.1:p.Arg979Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS322518" }, { "coordinates": [ { "allele": "A", "end": 2999, "referenceAllele": "G", "start": 2998 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000492259.6:c.*538G>A" ], "proteinEffect": { "hgvs": "ENSP00000457428.1:n.*538G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS329678" }, { "coordinates": [ { "allele": "A", "end": 2418, "referenceAllele": "G", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "ENST00000496281.1:n.2418G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332794" }, { "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "G", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000496816.5:c.815G>A" ], "proteinEffect": { "hgvs": "ENSP00000425576.1:p.Arg272Gln", "hgvsWellDefined": "ENSP00000425576.1:p.Arg272Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS333198" }, { "coordinates": [ { "allele": "A", "end": 3354, "referenceAllele": "G", "start": 3353 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "ENST00000508582.6:c.3008G>A" ], "proteinEffect": { "hgvs": "ENSP00000424307.2:p.Arg1003Gln", "hgvsWellDefined": "ENSP00000424307.2:p.Arg1003Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS339569" }, { "@id": "http://reg.genome.network/allele/PA2826680142", "coordinates": [ { "allele": "A", "end": 3763, "referenceAllele": "G", "start": 3762 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.1:c.2936G>A" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Arg979Gln", "hgvsWellDefined": "NP_001269938.1:p.Arg979Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS022415" }, { "@id": "http://reg.genome.network/allele/PA2826681682", "coordinates": [ { "allele": "A", "end": 3484, "referenceAllele": "G", "start": 3483 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283010.1:c.2267G>A" ], "proteinEffect": { "hgvs": "NP_001269939.1:p.Arg756Gln", "hgvsWellDefined": "NP_001269939.1:p.Arg756Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS022416" }, { "@id": "http://reg.genome.network/allele/PA2741958087", "coordinates": [ { "allele": "A", "end": 3763, "referenceAllele": "G", "start": 3762 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.3:c.2936G>A" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Arg979Gln", "hgvsWellDefined": "NP_057518.1:p.Arg979Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS034688" }, { "@id": "http://reg.genome.network/allele/PA2830107616", "coordinates": [ { "allele": "A", "end": 3835, "referenceAllele": "G", "start": 3834 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.4:c.3008G>A" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Arg1003Gln", "hgvsWellDefined": "NP_116575.3:p.Arg1003Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS039421" }, { "coordinates": [ { "allele": "A", "end": 3763, "referenceAllele": "G", "start": 3762 } ], "gene": "http://reg.genome.network/gene/GN044095", "geneNCBI_id": 100533107, "geneSymbol": "RTEL1-TNFRSF6B", "hgvs": [ "NR_037882.1:n.3763G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS050171" }, { "@id": "http://reg.genome.network/allele/PA2826680142", "coordinates": [ { "allele": "A", "end": 3261, "referenceAllele": "G", "start": 3260 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_001283009.2:c.2936G>A" ], "proteinEffect": { "hgvs": "NP_001269938.1:p.Arg979Gln", "hgvsWellDefined": "NP_001269938.1:p.Arg979Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS681988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360203.11:c.2936G>A" }, "RefSeq": { "hgvs": "NM_001283009.2:c.2936G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353332.5:p.Arg979Gln" }, "RefSeq": { "hgvs": "NP_001269938.1:p.Arg979Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2741958087", "coordinates": [ { "allele": "A", "end": 3261, "referenceAllele": "G", "start": 3260 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_016434.4:c.2936G>A" ], "proteinEffect": { "hgvs": "NP_057518.1:p.Arg979Gln", "hgvsWellDefined": "NP_057518.1:p.Arg979Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS697724" }, { "@id": "http://reg.genome.network/allele/PA2830107616", "coordinates": [ { "allele": "A", "end": 3333, "referenceAllele": "G", "start": 3332 } ], "gene": "http://reg.genome.network/gene/GN015888", "geneNCBI_id": 51750, "geneSymbol": "RTEL1", "hgvs": [ "NM_032957.5:c.3008G>A" ], "proteinEffect": { "hgvs": "NP_116575.3:p.Arg1003Gln", "hgvsWellDefined": "NP_116575.3:p.Arg1003Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS699223" } ], "type": "nucleotide" }