{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381694392", "communityStandardTitle": [ "NM_001360.3(DHCR7):c.575C>G (p.Ser192Cys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2260533[alleleid]", "alleleId": 2260533, "preferredName": "NM_001360.3(DHCR7):c.575C>G (p.Ser192Cys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2269404", "RCV": [ "RCV002799293" ], "variationId": 2269404 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71152324G>C?assembly=hg19", "id": "chr11:g.71152324G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71441278G>C?assembly=hg38", "id": "chr11:g.71441278G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/766299724", "rs": 766299724 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "C", "end": 71441278, "referenceAllele": "G", "start": 71441277 } ], "hgvs": [ "NC_000011.10:g.71441278G>C", "CM000673.2:g.71441278G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "C", "end": 71152324, "referenceAllele": "G", "start": 71152323 } ], "hgvs": [ "NC_000011.9:g.71152324G>C", "CM000673.1:g.71152324G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "C", "end": 70829972, "referenceAllele": "G", "start": 70829971 } ], "hgvs": [ "NC_000011.8:g.70829972G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "G", "end": 12154, "referenceAllele": "C", "start": 12153 } ], "hgvs": [ "NG_012655.2:g.12154C>G", "LRG_340:g.12154C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002509" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 796, "referenceAllele": "C", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000525346.6:c.575C>G" ], "proteinEffect": { "hgvs": "ENSP00000435707.3:p.Ser192Cys", "hgvsWellDefined": "ENSP00000435707.3:p.Ser192Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS825704" }, { "coordinates": [ { "allele": "G", "end": 1043, "referenceAllele": "C", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000526780.6:c.575C>G" ], "proteinEffect": { "hgvs": "ENSP00000435668.2:p.Ser192Cys", "hgvsWellDefined": "ENSP00000435668.2:p.Ser192Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS825723" }, { "coordinates": [ { "allele": "G", "end": 879, "referenceAllele": "C", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.6:c.401C>G" ], "proteinEffect": { "hgvs": "ENSP00000435047.2:p.Ser134Cys", "hgvsWellDefined": "ENSP00000435047.2:p.Ser134Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS825735" }, { "coordinates": [ { "allele": "G", "end": 852, "referenceAllele": "C", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682708.1:c.575C>G" ], "proteinEffect": { "hgvs": "ENSP00000506866.1:p.Ser192Cys", "hgvsWellDefined": "ENSP00000506866.1:p.Ser192Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS827697" }, { "coordinates": [ { "allele": "G", "end": 852, "referenceAllele": "C", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682880.1:c.575C>G" ], "proteinEffect": { "hgvs": "ENSP00000507520.1:p.Ser192Cys", "hgvsWellDefined": "ENSP00000507520.1:p.Ser192Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS827868" }, { "coordinates": [ { "allele": "G", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683287.1:c.611C>G" ], "proteinEffect": { "hgvs": "ENSP00000507607.1:p.Ser204Cys", "hgvsWellDefined": "ENSP00000507607.1:p.Ser204Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS828268" }, { "coordinates": [ { "allele": "G", "end": 852, "referenceAllele": "C", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683714.1:c.575C>G" ], "proteinEffect": { "hgvs": "ENSP00000508207.1:p.Ser192Cys", "hgvsWellDefined": "ENSP00000508207.1:p.Ser192Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS828685" }, { "coordinates": [ { "allele": "G", "end": 852, "referenceAllele": "C", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683874.1:n.852C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828841" }, { "coordinates": [ { "allele": "G", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000685320.1:c.-11C>G" ], "proteinEffect": { "hgvs": "ENSP00000509319.1:n.-11C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS830007" }, { "coordinates": [ { "allele": "G", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000690257.1:c.479C>G" ], "proteinEffect": { "hgvs": "ENSP00000510750.1:p.Ser160Cys", "hgvsWellDefined": "ENSP00000510750.1:p.Ser160Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS832614" }, { "coordinates": [ { "allele": "G", "end": 810, "referenceAllele": "C", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.8:c.575C>G" ], "proteinEffect": { "hgvs": "ENSP00000347717.4:p.Ser192Cys", "hgvsWellDefined": "ENSP00000347717.4:p.Ser192Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS748681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.575C>G" }, "RefSeq": { "hgvs": "NM_001360.3:c.575C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Ser192Cys" }, "RefSeq": { "hgvs": "NP_001351.2:p.Ser192Cys" } } } }, { "coordinates": [ { "allele": "G", "end": 852, "referenceAllele": "C", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.7:c.575C>G" ], "proteinEffect": { "hgvs": "ENSP00000347717.3:p.Ser192Cys", "hgvsWellDefined": "ENSP00000347717.3:p.Ser192Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS263462" }, { "coordinates": [ { "allele": "G", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000407721.6:c.575C>G" ], "proteinEffect": { "hgvs": "ENSP00000384739.2:p.Ser192Cys", "hgvsWellDefined": "ENSP00000384739.2:p.Ser192Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS280993" }, { "coordinates": [ { "allele": "G", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.5:c.479C>G" ], "proteinEffect": { "hgvs": "ENSP00000435047.1:p.Ser160Cys", "hgvsWellDefined": "ENSP00000435047.1:p.Ser160Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS353043" }, { "coordinates": [ { "allele": "G", "end": 70, "referenceAllele": "C", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000534701.1:n.70C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS359269" }, { "@id": "http://reg.genome.network/allele/PA2825964317", "coordinates": [ { "allele": "G", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.1:c.575C>G" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Ser192Cys", "hgvsWellDefined": "NP_001157289.1:p.Ser192Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS014428" }, { "@id": "http://reg.genome.network/allele/PA2580217883", "coordinates": [ { "allele": "G", "end": 848, "referenceAllele": "C", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.2:c.575C>G", "LRG_340t1:c.575C>G" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Ser192Cys", "hgvsWellDefined": "NP_001351.2:p.Ser192Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS026750" }, { "coordinates": [ { "allele": "G", "end": 798, "referenceAllele": "C", "start": 797 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.1:c.575C>G" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Ser192Cys", "hgvsWellDefined": "XP_011543079.1:p.Ser192Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS111687" }, { "coordinates": [ { "allele": "G", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.2:c.575C>G" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Ser192Cys", "hgvsWellDefined": "XP_011543079.1:p.Ser192Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS555811" }, { "@id": "http://reg.genome.network/allele/PA2825964317", "coordinates": [ { "allele": "G", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.2:c.575C>G" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Ser192Cys", "hgvsWellDefined": "NP_001157289.1:p.Ser192Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS678274" }, { "@id": "http://reg.genome.network/allele/PA2580217883", "coordinates": [ { "allele": "G", "end": 810, "referenceAllele": "C", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.3:c.575C>G" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Ser192Cys", "hgvsWellDefined": "NP_001351.2:p.Ser192Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690492", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.575C>G" }, "RefSeq": { "hgvs": "NM_001360.3:c.575C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Ser192Cys" }, "RefSeq": { "hgvs": "NP_001351.2:p.Ser192Cys" } } } } ], "type": "nucleotide" }