{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381702131", "communityStandardTitle": [ "NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=546316[alleleid]", "alleleId": 546316, "preferredName": "NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/553336", "RCV": [ "RCV000668758" ], "variationId": 553336 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71146770A>G?assembly=hg19", "id": "chr11:g.71146770A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71435724A>G?assembly=hg38", "id": "chr11:g.71435724A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1555145619", "rs": 1555145619 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 71435724, "referenceAllele": "A", "start": 71435723 } ], "hgvs": [ "NC_000011.10:g.71435724A>G", "CM000673.2:g.71435724A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 71146770, "referenceAllele": "A", "start": 71146769 } ], "hgvs": [ "NC_000011.9:g.71146770A>G", "CM000673.1:g.71146770A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 70824418, "referenceAllele": "A", "start": 70824417 } ], "hgvs": [ "NC_000011.8:g.70824418A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "C", "end": 17708, "referenceAllele": "T", "start": 17707 } ], "hgvs": [ "NG_012655.2:g.17708T>C", "LRG_340:g.17708T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002509" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1300, "referenceAllele": "T", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000525346.6:c.1079T>C" ], "proteinEffect": { "hgvs": "ENSP00000435707.3:p.Leu360Pro", "hgvsWellDefined": "ENSP00000435707.3:p.Leu360Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS825704" }, { "coordinates": [ { "allele": "C", "end": 1547, "referenceAllele": "T", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000526780.6:c.1079T>C" ], "proteinEffect": { "hgvs": "ENSP00000435668.2:p.Leu360Pro", "hgvsWellDefined": "ENSP00000435668.2:p.Leu360Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS825723" }, { "coordinates": [ { "allele": "C", "end": 1383, "referenceAllele": "T", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.6:c.905T>C" ], "proteinEffect": { "hgvs": "ENSP00000435047.2:p.Leu302Pro", "hgvsWellDefined": "ENSP00000435047.2:p.Leu302Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS825735" }, { "coordinates": [ { "allele": "C", "end": 1407, "referenceAllele": "T", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682708.1:c.1130T>C" ], "proteinEffect": { "hgvs": "ENSP00000506866.1:p.Leu377Pro", "hgvsWellDefined": "ENSP00000506866.1:p.Leu377Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS827697" }, { "coordinates": [ { "allele": "C", "end": 1392, "referenceAllele": "T", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683287.1:c.1115T>C" ], "proteinEffect": { "hgvs": "ENSP00000507607.1:p.Leu372Pro", "hgvsWellDefined": "ENSP00000507607.1:p.Leu372Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS828268" }, { "coordinates": [ { "allele": "C", "end": 1364, "referenceAllele": "T", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683714.1:c.1087T>C" ], "proteinEffect": { "hgvs": "ENSP00000508207.1:p.Cys363Arg", "hgvsWellDefined": "ENSP00000508207.1:p.Cys363Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS828685" }, { "coordinates": [ { "allele": "C", "end": 1119, "referenceAllele": "T", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000684396.1:n.1119T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829351" }, { "coordinates": [ { "allele": "C", "end": 984, "referenceAllele": "T", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000685320.1:c.494T>C" ], "proteinEffect": { "hgvs": "ENSP00000509319.1:p.Leu165Pro", "hgvsWellDefined": "ENSP00000509319.1:p.Leu165Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS830007" }, { "coordinates": [ { "allele": "C", "end": 1212, "referenceAllele": "T", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000690257.1:c.983T>C" ], "proteinEffect": { "hgvs": "ENSP00000510750.1:p.Leu328Pro", "hgvsWellDefined": "ENSP00000510750.1:p.Leu328Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS832614" }, { "coordinates": [ { "allele": "C", "end": 1314, "referenceAllele": "T", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.8:c.1079T>C" ], "proteinEffect": { "hgvs": "ENSP00000347717.4:p.Leu360Pro", "hgvsWellDefined": "ENSP00000347717.4:p.Leu360Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS748681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.1079T>C" }, "RefSeq": { "hgvs": "NM_001360.3:c.1079T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Leu360Pro" }, "RefSeq": { "hgvs": "NP_001351.2:p.Leu360Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 1356, "referenceAllele": "T", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.7:c.1079T>C" ], "proteinEffect": { "hgvs": "ENSP00000347717.3:p.Leu360Pro", "hgvsWellDefined": "ENSP00000347717.3:p.Leu360Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS263462" }, { "coordinates": [ { "allele": "C", "end": 1291, "referenceAllele": "T", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000407721.6:c.1079T>C" ], "proteinEffect": { "hgvs": "ENSP00000384739.2:p.Leu360Pro", "hgvsWellDefined": "ENSP00000384739.2:p.Leu360Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS280993" }, { "coordinates": [ { "allele": "C", "end": 580, "referenceAllele": "T", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000525137.1:c.580T>C" ], "proteinEffect": { "hgvs": "ENSP00000435956.1:p.Cys194Arg", "hgvsWellDefined": "ENSP00000435956.1:p.Cys194Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS351205" }, { "coordinates": [ { "allele": "C", "end": 329, "referenceAllele": "T", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000533800.5:c.329T>C" ], "proteinEffect": { "hgvs": "ENSP00000435011.1:p.Leu110Pro", "hgvsWellDefined": "ENSP00000435011.1:p.Leu110Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS358516" }, { "coordinates": [ { "allele": "C", "end": 319, "endIntronDirection": "+", "endIntronOffset": 2088, "referenceAllele": "T", "start": 319, "startIntronDirection": "+", "startIntronOffset": 2087 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000534795.5:c.319+2088T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS359354" }, { "@id": "http://reg.genome.network/allele/PA2825964522", "coordinates": [ { "allele": "C", "end": 1329, "referenceAllele": "T", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.1:c.1079T>C" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Leu360Pro", "hgvsWellDefined": "NP_001157289.1:p.Leu360Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS014428" }, { "@id": "http://reg.genome.network/allele/PA658828935", "coordinates": [ { "allele": "C", "end": 1352, "referenceAllele": "T", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.2:c.1079T>C", "LRG_340t1:c.1079T>C" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Leu360Pro", "hgvsWellDefined": "NP_001351.2:p.Leu360Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS026750" }, { "coordinates": [ { "allele": "C", "end": 1436, "referenceAllele": "T", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.1:c.1213T>C" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Cys405Arg", "hgvsWellDefined": "XP_011543079.1:p.Cys405Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS111687" }, { "coordinates": [ { "allele": "C", "end": 1442, "referenceAllele": "T", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.2:c.1213T>C" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Cys405Arg", "hgvsWellDefined": "XP_011543079.1:p.Cys405Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS555811" }, { "@id": "http://reg.genome.network/allele/PA2825964522", "coordinates": [ { "allele": "C", "end": 1291, "referenceAllele": "T", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.2:c.1079T>C" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Leu360Pro", "hgvsWellDefined": "NP_001157289.1:p.Leu360Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS678274" }, { "@id": "http://reg.genome.network/allele/PA658828935", "coordinates": [ { "allele": "C", "end": 1314, "referenceAllele": "T", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.3:c.1079T>C" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Leu360Pro", "hgvsWellDefined": "NP_001351.2:p.Leu360Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS690492", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.1079T>C" }, "RefSeq": { "hgvs": "NM_001360.3:c.1079T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Leu360Pro" }, "RefSeq": { "hgvs": "NP_001351.2:p.Leu360Pro" } } } } ], "type": "nucleotide" }