{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381700493", "communityStandardTitle": [ "NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1874315[alleleid]", "alleleId": 1874315, "preferredName": "NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2137188", "RCV": [ "RCV003062426" ], "variationId": 2137188 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71146452A>G?assembly=hg19", "id": "chr11:g.71146452A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71435406A>G?assembly=hg38", "id": "chr11:g.71435406A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2539207660", "rs": 2539207660 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 71435406, "referenceAllele": "A", "start": 71435405 } ], "hgvs": [ "NC_000011.10:g.71435406A>G", "CM000673.2:g.71435406A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 71146452, "referenceAllele": "A", "start": 71146451 } ], "hgvs": [ "NC_000011.9:g.71146452A>G", "CM000673.1:g.71146452A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 70824100, "referenceAllele": "A", "start": 70824099 } ], "hgvs": [ "NC_000011.8:g.70824100A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "C", "end": 18026, "referenceAllele": "T", "start": 18025 } ], "hgvs": [ "NG_012655.2:g.18026T>C", "LRG_340:g.18026T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002509" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1618, "referenceAllele": "T", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000525346.6:c.1397T>C" ], "proteinEffect": { "hgvs": "ENSP00000435707.3:p.Val466Ala", "hgvsWellDefined": "ENSP00000435707.3:p.Val466Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS825704" }, { "coordinates": [ { "allele": "C", "end": 1865, "referenceAllele": "T", "start": 1864 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000526780.6:c.1397T>C" ], "proteinEffect": { "hgvs": "ENSP00000435668.2:p.Val466Ala", "hgvsWellDefined": "ENSP00000435668.2:p.Val466Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS825723" }, { "coordinates": [ { "allele": "C", "end": 1701, "referenceAllele": "T", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.6:c.1223T>C" ], "proteinEffect": { "hgvs": "ENSP00000435047.2:p.Val408Ala", "hgvsWellDefined": "ENSP00000435047.2:p.Val408Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS825735" }, { "coordinates": [ { "allele": "C", "end": 1725, "referenceAllele": "T", "start": 1724 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682708.1:c.1448T>C" ], "proteinEffect": { "hgvs": "ENSP00000506866.1:p.Val483Ala", "hgvsWellDefined": "ENSP00000506866.1:p.Val483Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS827697" }, { "coordinates": [ { "allele": "C", "end": 1710, "referenceAllele": "T", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683287.1:c.1433T>C" ], "proteinEffect": { "hgvs": "ENSP00000507607.1:p.Val478Ala", "hgvsWellDefined": "ENSP00000507607.1:p.Val478Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS828268" }, { "coordinates": [ { "allele": "C", "end": 1682, "referenceAllele": "T", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683714.1:c.*160T>C" ], "proteinEffect": { "hgvs": "ENSP00000508207.1:n.*160T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS828685" }, { "coordinates": [ { "allele": "C", "end": 1437, "referenceAllele": "T", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000684396.1:n.1437T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829351" }, { "coordinates": [ { "allele": "C", "end": 1302, "referenceAllele": "T", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000685320.1:c.812T>C" ], "proteinEffect": { "hgvs": "ENSP00000509319.1:p.Val271Ala", "hgvsWellDefined": "ENSP00000509319.1:p.Val271Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS830007" }, { "coordinates": [ { "allele": "C", "end": 1530, "referenceAllele": "T", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000690257.1:c.1301T>C" ], "proteinEffect": { "hgvs": "ENSP00000510750.1:p.Val434Ala", "hgvsWellDefined": "ENSP00000510750.1:p.Val434Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS832614" }, { "coordinates": [ { "allele": "C", "end": 1632, "referenceAllele": "T", "start": 1631 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.8:c.1397T>C" ], "proteinEffect": { "hgvs": "ENSP00000347717.4:p.Val466Ala", "hgvsWellDefined": "ENSP00000347717.4:p.Val466Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS748681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.1397T>C" }, "RefSeq": { "hgvs": "NM_001360.3:c.1397T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Val466Ala" }, "RefSeq": { "hgvs": "NP_001351.2:p.Val466Ala" } } } }, { "coordinates": [ { "allele": "C", "end": 1674, "referenceAllele": "T", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.7:c.1397T>C" ], "proteinEffect": { "hgvs": "ENSP00000347717.3:p.Val466Ala", "hgvsWellDefined": "ENSP00000347717.3:p.Val466Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS263462" }, { "coordinates": [ { "allele": "C", "end": 1609, "referenceAllele": "T", "start": 1608 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000407721.6:c.1397T>C" ], "proteinEffect": { "hgvs": "ENSP00000384739.2:p.Val466Ala", "hgvsWellDefined": "ENSP00000384739.2:p.Val466Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS280993" }, { "coordinates": [ { "allele": "C", "end": 898, "referenceAllele": "T", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000525137.1:c.898T>C" ], "proteinEffect": { "hgvs": "ENSP00000435956.1:n.898T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS351205" }, { "coordinates": [ { "allele": "C", "end": 611, "endIntronDirection": "+", "endIntronOffset": 36, "referenceAllele": "T", "start": 611, "startIntronDirection": "+", "startIntronOffset": 35 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000533800.5:c.611+36T>C" ], "proteinEffect": { "hgvs": "ENSP00000435011.1:n.611+36T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS358516" }, { "coordinates": [ { "allele": "C", "end": 319, "endIntronDirection": "+", "endIntronOffset": 2406, "referenceAllele": "T", "start": 319, "startIntronDirection": "+", "startIntronOffset": 2405 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000534795.5:c.319+2406T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS359354" }, { "@id": "http://reg.genome.network/allele/PA2825964663", "coordinates": [ { "allele": "C", "end": 1647, "referenceAllele": "T", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.1:c.1397T>C" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Val466Ala", "hgvsWellDefined": "NP_001157289.1:p.Val466Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS014428" }, { "@id": "http://reg.genome.network/allele/PA2580217930", "coordinates": [ { "allele": "C", "end": 1670, "referenceAllele": "T", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.2:c.1397T>C", "LRG_340t1:c.1397T>C" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Val466Ala", "hgvsWellDefined": "NP_001351.2:p.Val466Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS026750" }, { "coordinates": [ { "allele": "C", "end": 1754, "referenceAllele": "T", "start": 1753 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.1:c.*160T>C" ], "proteinEffect": { "hgvs": "XP_011543079.1:n.*160T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS111687" }, { "coordinates": [ { "allele": "C", "end": 1760, "referenceAllele": "T", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.2:c.*160T>C" ], "proteinEffect": { "hgvs": "XP_011543079.1:n.*160T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS555811" }, { "@id": "http://reg.genome.network/allele/PA2825964663", "coordinates": [ { "allele": "C", "end": 1609, "referenceAllele": "T", "start": 1608 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.2:c.1397T>C" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Val466Ala", "hgvsWellDefined": "NP_001157289.1:p.Val466Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS678274" }, { "@id": "http://reg.genome.network/allele/PA2580217930", "coordinates": [ { "allele": "C", "end": 1632, "referenceAllele": "T", "start": 1631 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.3:c.1397T>C" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Val466Ala", "hgvsWellDefined": "NP_001351.2:p.Val466Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS690492", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.1397T>C" }, "RefSeq": { "hgvs": "NM_001360.3:c.1397T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Val466Ala" }, "RefSeq": { "hgvs": "NP_001351.2:p.Val466Ala" } } } } ], "type": "nucleotide" }