{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA6162492", "communityStandardTitle": [ "NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=491417[alleleid]", "alleleId": 491417, "preferredName": "NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/499993", "RCV": [ "RCV000596201", "RCV000671914" ], "variationId": 499993 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-71150086-C-T", "id": "11-71150086-C-T", "variant": "11:71150086 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71150086C>T?assembly=hg19", "id": "chr11:g.71150086C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.71439040C>T?assembly=hg38", "id": "chr11:g.71439040C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/373121544", "rs": 373121544 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-71150086-C-T?dataset=gnomad_r2_1", "id": "11-71150086-C-T", "variant": "11:71150086 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-71439040-C-T?dataset=gnomad_r3", "id": "11-71439040-C-T", "variant": "11:71439040 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-71439040-C-T?dataset=gnomad_r4", "id": "11-71439040-C-T", "variant": "11:71439040 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 71439040, "referenceAllele": "C", "start": 71439039 } ], "hgvs": [ "NC_000011.10:g.71439040C>T", "CM000673.2:g.71439040C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 71150086, "referenceAllele": "C", "start": 71150085 } ], "hgvs": [ "NC_000011.9:g.71150086C>T", "CM000673.1:g.71150086C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 70827734, "referenceAllele": "C", "start": 70827733 } ], "hgvs": [ "NC_000011.8:g.70827734C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 14392, "referenceAllele": "G", "start": 14391 } ], "hgvs": [ "NG_012655.2:g.14392G>A", "LRG_340:g.14392G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002509" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 891, "referenceAllele": "G", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000525346.6:c.670G>A" ], "proteinEffect": { "hgvs": "ENSP00000435707.3:p.Glu224Lys", "hgvsWellDefined": "ENSP00000435707.3:p.Glu224Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS825704" }, { "coordinates": [ { "allele": "A", "end": 1138, "referenceAllele": "G", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000526780.6:c.670G>A" ], "proteinEffect": { "hgvs": "ENSP00000435668.2:p.Glu224Lys", "hgvsWellDefined": "ENSP00000435668.2:p.Glu224Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS825723" }, { "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.6:c.496G>A" ], "proteinEffect": { "hgvs": "ENSP00000435047.2:p.Glu166Lys", "hgvsWellDefined": "ENSP00000435047.2:p.Glu166Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS825735" }, { "coordinates": [ { "allele": "A", "end": 998, "referenceAllele": "G", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682708.1:c.721G>A" ], "proteinEffect": { "hgvs": "ENSP00000506866.1:p.Glu241Lys", "hgvsWellDefined": "ENSP00000506866.1:p.Glu241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS827697" }, { "coordinates": [ { "allele": "A", "end": 947, "referenceAllele": "G", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000682880.1:c.670G>A" ], "proteinEffect": { "hgvs": "ENSP00000507520.1:p.Glu224Lys", "hgvsWellDefined": "ENSP00000507520.1:p.Glu224Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS827868" }, { "coordinates": [ { "allele": "A", "end": 983, "referenceAllele": "G", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683287.1:c.706G>A" ], "proteinEffect": { "hgvs": "ENSP00000507607.1:p.Glu236Lys", "hgvsWellDefined": "ENSP00000507607.1:p.Glu236Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS828268" }, { "coordinates": [ { "allele": "A", "end": 947, "referenceAllele": "G", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000683714.1:c.670G>A" ], "proteinEffect": { "hgvs": "ENSP00000508207.1:p.Glu224Lys", "hgvsWellDefined": "ENSP00000508207.1:p.Glu224Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS828685" }, { "coordinates": [ { "allele": "A", "end": 710, "referenceAllele": "G", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000684396.1:n.710G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829351" }, { "coordinates": [ { "allele": "A", "end": 575, "referenceAllele": "G", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000685320.1:c.85G>A" ], "proteinEffect": { "hgvs": "ENSP00000509319.1:p.Glu29Lys", "hgvsWellDefined": "ENSP00000509319.1:p.Glu29Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS830007" }, { "coordinates": [ { "allele": "A", "end": 803, "referenceAllele": "G", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000690257.1:c.574G>A" ], "proteinEffect": { "hgvs": "ENSP00000510750.1:p.Glu192Lys", "hgvsWellDefined": "ENSP00000510750.1:p.Glu192Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS832614" }, { "coordinates": [ { "allele": "A", "end": 905, "referenceAllele": "G", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.8:c.670G>A" ], "proteinEffect": { "hgvs": "ENSP00000347717.4:p.Glu224Lys", "hgvsWellDefined": "ENSP00000347717.4:p.Glu224Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS748681", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.670G>A" }, "RefSeq": { "hgvs": "NM_001360.3:c.670G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Glu224Lys" }, "RefSeq": { "hgvs": "NP_001351.2:p.Glu224Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 947, "referenceAllele": "G", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000355527.7:c.670G>A" ], "proteinEffect": { "hgvs": "ENSP00000347717.3:p.Glu224Lys", "hgvsWellDefined": "ENSP00000347717.3:p.Glu224Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS263462" }, { "coordinates": [ { "allele": "A", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000407721.6:c.670G>A" ], "proteinEffect": { "hgvs": "ENSP00000384739.2:p.Glu224Lys", "hgvsWellDefined": "ENSP00000384739.2:p.Glu224Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS280993" }, { "coordinates": [ { "allele": "A", "end": 37, "referenceAllele": "G", "start": 36 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000525137.1:c.37G>A" ], "proteinEffect": { "hgvs": "ENSP00000435956.1:p.Glu13Lys", "hgvsWellDefined": "ENSP00000435956.1:p.Glu13Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS351205" }, { "coordinates": [ { "allele": "A", "end": 803, "referenceAllele": "G", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000527316.5:c.574G>A" ], "proteinEffect": { "hgvs": "ENSP00000435047.1:p.Glu192Lys", "hgvsWellDefined": "ENSP00000435047.1:p.Glu192Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS353043" }, { "coordinates": [ { "allele": "A", "end": 165, "referenceAllele": "G", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000534701.1:n.165G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS359269" }, { "coordinates": [ { "allele": "A", "end": 26, "referenceAllele": "G", "start": 25 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "ENST00000534795.5:c.26G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS359354" }, { "@id": "http://reg.genome.network/allele/PA2825964354", "coordinates": [ { "allele": "A", "end": 920, "referenceAllele": "G", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.1:c.670G>A" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Glu224Lys", "hgvsWellDefined": "NP_001157289.1:p.Glu224Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS014428" }, { "@id": "http://reg.genome.network/allele/PA658807104", "coordinates": [ { "allele": "A", "end": 943, "referenceAllele": "G", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.2:c.670G>A", "LRG_340t1:c.670G>A" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Glu224Lys", "hgvsWellDefined": "NP_001351.2:p.Glu224Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS026750" }, { "coordinates": [ { "allele": "A", "end": 893, "referenceAllele": "G", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.1:c.670G>A" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Glu224Lys", "hgvsWellDefined": "XP_011543079.1:p.Glu224Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS111687" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "G", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "XM_011544777.2:c.670G>A" ], "proteinEffect": { "hgvs": "XP_011543079.1:p.Glu224Lys", "hgvsWellDefined": "XP_011543079.1:p.Glu224Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS555811" }, { "@id": "http://reg.genome.network/allele/PA2825964354", "coordinates": [ { "allele": "A", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001163817.2:c.670G>A" ], "proteinEffect": { "hgvs": "NP_001157289.1:p.Glu224Lys", "hgvsWellDefined": "NP_001157289.1:p.Glu224Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS678274" }, { "@id": "http://reg.genome.network/allele/PA658807104", "coordinates": [ { "allele": "A", "end": 905, "referenceAllele": "G", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN002860", "geneNCBI_id": 1717, "geneSymbol": "DHCR7", "hgvs": [ "NM_001360.3:c.670G>A" ], "proteinEffect": { "hgvs": "NP_001351.2:p.Glu224Lys", "hgvsWellDefined": "NP_001351.2:p.Glu224Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690492", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355527.8:c.670G>A" }, "RefSeq": { "hgvs": "NM_001360.3:c.670G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347717.4:p.Glu224Lys" }, "RefSeq": { "hgvs": "NP_001351.2:p.Glu224Lys" } } } } ], "type": "nucleotide" }