{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381694688", "communityStandardTitle": [ "NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=546990[alleleid]", "alleleId": 546990, "preferredName": "NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/558625", "RCV": [ "RCV000674923" ], "variationId": 558625 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71152466T>G?assembly=hg19", "id": "chr11:g.71152466T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71441420T>G?assembly=hg38", "id": "chr11:g.71441420T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1555146475", "rs": 1555146475 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-71441420-T-G?dataset=gnomad_r4", "id": "11-71441420-T-G", "variant": "11:71441420 T / G" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 71441420, "referenceAllele": "T", "start": 71441419 } ], "hgvs": [ "NC_000011.10:g.71441420T>G", "CM000673.2:g.71441420T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 71152466, "referenceAllele": "T", "start": 71152465 } ], "hgvs": [ "NC_000011.9:g.71152466T>G", "CM000673.1:g.71152466T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 70830114, "referenceAllele": "T", "start": 70830113 } ], "hgvs": [ "NC_000011.8:g.70830114T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "C", "end": 12012, "referenceAllele": "A", "start": 12011 } ], "hgvs": [ "NG_012655.2:g.12012A>C", "LRG_340:g.12012A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002509" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 654, "referenceAllele": "A", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000525346.6:c.433A>C" ], "proteinEffect": { "hgvs": "ENSP00000435707.3:p.Ile145Leu", "hgvsWellDefined": "ENSP00000435707.3:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS825704" }, { "coordinates": [ { "allele": "C", "end": 901, "referenceAllele": "A", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000526780.6:c.433A>C" ], "proteinEffect": { "hgvs": "ENSP00000435668.2:p.Ile145Leu", "hgvsWellDefined": "ENSP00000435668.2:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS825723" }, { "coordinates": [ { "allele": "C", "end": 737, "referenceAllele": "A", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.6:c.259A>C" ], "proteinEffect": { "hgvs": "ENSP00000435047.2:p.Ile87Leu", "hgvsWellDefined": "ENSP00000435047.2:p.Ile87Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS825735" }, { "coordinates": [ { "allele": "C", "end": 710, "referenceAllele": "A", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682708.1:c.433A>C" ], "proteinEffect": { "hgvs": "ENSP00000506866.1:p.Ile145Leu", "hgvsWellDefined": "ENSP00000506866.1:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS827697" }, { "coordinates": [ { "allele": "C", "end": 710, "referenceAllele": "A", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682880.1:c.433A>C" ], "proteinEffect": { "hgvs": "ENSP00000507520.1:p.Ile145Leu", "hgvsWellDefined": "ENSP00000507520.1:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS827868" }, { "coordinates": [ { "allele": "C", "end": 746, "referenceAllele": "A", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683287.1:c.469A>C" ], "proteinEffect": { "hgvs": "ENSP00000507607.1:p.Ile157Leu", "hgvsWellDefined": "ENSP00000507607.1:p.Ile157Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS828268" }, { "coordinates": [ { "allele": "C", "end": 710, "referenceAllele": "A", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683714.1:c.433A>C" ], "proteinEffect": { "hgvs": "ENSP00000508207.1:p.Ile145Leu", "hgvsWellDefined": "ENSP00000508207.1:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS828685" }, { "coordinates": [ { "allele": "C", "end": 710, "referenceAllele": "A", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683874.1:n.710A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828841" }, { "coordinates": [ { "allele": "C", "end": 338, "referenceAllele": "A", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000685320.1:c.-153A>C" ], "proteinEffect": { "hgvs": "ENSP00000509319.1:n.-153A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS830007" }, { "coordinates": [ { "allele": "C", "end": 566, "referenceAllele": "A", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000690257.1:c.337A>C" ], "proteinEffect": { "hgvs": "ENSP00000510750.1:p.Ile113Leu", "hgvsWellDefined": "ENSP00000510750.1:p.Ile113Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS832614" }, { "coordinates": [ { "allele": "C", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.8:c.433A>C" ], "proteinEffect": { "hgvs": "ENSP00000347717.4:p.Ile145Leu", "hgvsWellDefined": "ENSP00000347717.4:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS748681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.433A>C" }, "RefSeq": { "hgvs": "NM_001360.3:c.433A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Ile145Leu" }, "RefSeq": { "hgvs": "NP_001351.2:p.Ile145Leu" } } } }, { "coordinates": [ { "allele": "C", "end": 710, "referenceAllele": "A", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.7:c.433A>C" ], "proteinEffect": { "hgvs": "ENSP00000347717.3:p.Ile145Leu", "hgvsWellDefined": "ENSP00000347717.3:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS263462" }, { "coordinates": [ { "allele": "C", "end": 645, "referenceAllele": "A", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000407721.6:c.433A>C" ], "proteinEffect": { "hgvs": "ENSP00000384739.2:p.Ile145Leu", "hgvsWellDefined": "ENSP00000384739.2:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS280993" }, { "coordinates": [ { "allele": "C", "end": 908, "referenceAllele": "A", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000526780.5:c.433A>C" ], "proteinEffect": { "hgvs": "ENSP00000435668.1:p.Ile145Leu", "hgvsWellDefined": "ENSP00000435668.1:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS352587" }, { "coordinates": [ { "allele": "C", "end": 566, "referenceAllele": "A", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.5:c.337A>C" ], "proteinEffect": { "hgvs": "ENSP00000435047.1:p.Ile113Leu", "hgvsWellDefined": "ENSP00000435047.1:p.Ile113Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS353043" }, { "@id": "http://reg.genome.network/allele/PA106615", "coordinates": [ { "allele": "C", "end": 683, "referenceAllele": "A", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.1:c.433A>C" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Ile145Leu", "hgvsWellDefined": "NP_001157289.1:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS014428" }, { "@id": "http://reg.genome.network/allele/PA658828885", "coordinates": [ { "allele": "C", "end": 706, "referenceAllele": "A", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.2:c.433A>C", "LRG_340t1:c.433A>C" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Ile145Leu", "hgvsWellDefined": "NP_001351.2:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS026750" }, { "coordinates": [ { "allele": "C", "end": 656, "referenceAllele": "A", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.1:c.433A>C" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Ile145Leu", "hgvsWellDefined": "XP_011543079.1:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS111687" }, { "coordinates": [ { "allele": "C", "end": 662, "referenceAllele": "A", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.2:c.433A>C" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Ile145Leu", "hgvsWellDefined": "XP_011543079.1:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS555811" }, { "@id": "http://reg.genome.network/allele/PA106615", "coordinates": [ { "allele": "C", "end": 645, "referenceAllele": "A", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.2:c.433A>C" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Ile145Leu", "hgvsWellDefined": "NP_001157289.1:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS678274" }, { "@id": "http://reg.genome.network/allele/PA658828885", "coordinates": [ { "allele": "C", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.3:c.433A>C" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Ile145Leu", "hgvsWellDefined": "NP_001351.2:p.Ile145Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690492", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.433A>C" }, "RefSeq": { "hgvs": "NM_001360.3:c.433A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Ile145Leu" }, "RefSeq": { "hgvs": "NP_001351.2:p.Ile145Leu" } } } } ], "type": "nucleotide" }