{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3341713", "communityStandardTitle": [ "NM_032119.4(ADGRV1):c.14366G>A (p.Arg4789Gln)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4591129", "active": true, "id": "COSM4591129" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=406776[alleleid]", "alleleId": 406776, "preferredName": "NM_032119.4(ADGRV1):c.14366G>A (p.Arg4789Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418237", "RCV": [ "RCV000482131" ], "variationId": 418237 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-90087012-G-A", "id": "5-90087012-G-A", "variant": "5:90087012 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.90087012G>A?assembly=hg19", "id": "chr5:g.90087012G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.90791195G>A?assembly=hg38", "id": "chr5:g.90791195G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/765849229", "rs": 765849229 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-90087012-G-A?dataset=gnomad_r2_1", "id": "5-90087012-G-A", "variant": "5:90087012 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-90791195-G-A?dataset=gnomad_r4", "id": "5-90791195-G-A", "variant": "5:90791195 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 90791195, "referenceAllele": "G", "start": 90791194 } ], "hgvs": [ "NC_000005.10:g.90791195G>A", "CM000667.2:g.90791195G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 90087012, "referenceAllele": "G", "start": 90087011 } ], "hgvs": [ "NC_000005.9:g.90087012G>A", "CM000667.1:g.90087012G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 90122768, "referenceAllele": "G", "start": 90122767 } ], "hgvs": [ "NC_000005.8:g.90122768G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 237396, "referenceAllele": "G", "start": 237395 } ], "hgvs": [ "NG_007083.1:g.237396G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000463" }, { "coordinates": [ { "allele": "A", "end": 266852, "referenceAllele": "G", "start": 266851 } ], "hgvs": [ "NG_007083.2:g.266852G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616065" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 14465, "referenceAllele": "G", "start": 14464 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000405460.9:c.14366G>A" ], "proteinEffect": { "hgvs": "ENSP00000384582.2:p.Arg4789Gln", "hgvsWellDefined": "ENSP00000384582.2:p.Arg4789Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS754126", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000405460.9:c.14366G>A" }, "RefSeq": { "hgvs": "NM_032119.4:c.14366G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384582.2:p.Arg4789Gln" }, "RefSeq": { "hgvs": "NP_115495.3:p.Arg4789Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 3320, "referenceAllele": "G", "start": 3319 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000425867.3:c.3320G>A" ], "proteinEffect": { "hgvs": "ENSP00000392618.3:p.Arg1107Gln", "hgvsWellDefined": "ENSP00000392618.3:p.Arg1107Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS755103" }, { "coordinates": [ { "allele": "A", "end": 41, "referenceAllele": "G", "start": 40 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000507314.2:c.41G>A" ], "proteinEffect": { "hgvs": "ENSP00000491299.1:p.Arg14Gln", "hgvsWellDefined": "ENSP00000491299.1:p.Arg14Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS758112" }, { "coordinates": [ { "allele": "A", "end": 1633, "referenceAllele": "G", "start": 1632 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000638510.1:n.1633G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764568" }, { "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000638585.1:n.132G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764601" }, { "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000638975.1:c.995G>A" ], "proteinEffect": { "hgvs": "ENSP00000492630.1:p.Arg332Gln", "hgvsWellDefined": "ENSP00000492630.1:p.Arg332Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS764798" }, { "coordinates": [ { "allele": "A", "end": 265, "endIntronDirection": "+", "endIntronOffset": 114986, "referenceAllele": "G", "start": 265, "startIntronDirection": "+", "startIntronOffset": 114985 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000639431.1:c.265+114986G>A" ], "proteinEffect": { "hgvs": "ENSP00000491057.1:n.265+114986G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS765023" }, { "coordinates": [ { "allele": "A", "end": 776, "referenceAllele": "G", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000640407.1:c.776G>A" ], "proteinEffect": { "hgvs": "ENSP00000491425.1:p.Arg259Gln", "hgvsWellDefined": "ENSP00000491425.1:p.Arg259Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS765482" }, { "coordinates": [ { "allele": "A", "end": 14462, "referenceAllele": "G", "start": 14461 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000405460.6:c.14366G>A" ], "proteinEffect": { "hgvs": "ENSP00000384582.2:p.Arg4789Gln", "hgvsWellDefined": "ENSP00000384582.2:p.Arg4789Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS280355" }, { "coordinates": [ { "allele": "A", "end": 1633, "referenceAllele": "G", "start": 1632 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000425867.2:c.1349G>A" ], "proteinEffect": { "hgvs": "ENSP00000392618.2:p.Arg450Gln", "hgvsWellDefined": "ENSP00000392618.2:p.Arg450Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS288957" }, { "coordinates": [ { "allele": "A", "end": 41, "referenceAllele": "G", "start": 40 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000507314.1:n.41G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS338633" }, { "@id": "http://reg.genome.network/allele/PA645425746", "coordinates": [ { "allele": "A", "end": 14462, "referenceAllele": "G", "start": 14461 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "NM_032119.3:c.14366G>A" ], "proteinEffect": { "hgvs": "NP_115495.3:p.Arg4789Gln", "hgvsWellDefined": "NP_115495.3:p.Arg4789Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS038850" }, { "coordinates": [ { "allele": "A", "end": 14379, "referenceAllele": "G", "start": 14378 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "NR_003149.1:n.14379G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS046177" }, { "coordinates": [ { "allele": "A", "end": 14454, "referenceAllele": "G", "start": 14453 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_011543675.1:c.14363G>A" ], "proteinEffect": { "hgvs": "XP_011541977.1:p.Arg4788Gln", "hgvsWellDefined": "XP_011541977.1:p.Arg4788Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS110592" }, { "coordinates": [ { "allele": "A", "end": 14376, "referenceAllele": "G", "start": 14375 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_011543676.1:c.14285G>A" ], "proteinEffect": { "hgvs": "XP_011541978.1:p.Arg4762Gln", "hgvsWellDefined": "XP_011541978.1:p.Arg4762Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS110593" }, { "coordinates": [ { "allele": "A", "end": 12276, "referenceAllele": "G", "start": 12275 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_011543677.1:c.11669G>A" ], "proteinEffect": { "hgvs": "XP_011541979.1:p.Arg3890Gln", "hgvsWellDefined": "XP_011541979.1:p.Arg3890Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS110594" }, { "coordinates": [ { "allele": "A", "end": 14457, "referenceAllele": "G", "start": 14456 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_011543678.1:c.14366G>A" ], "proteinEffect": { "hgvs": "XP_011541980.1:p.Arg4789Gln", "hgvsWellDefined": "XP_011541980.1:p.Arg4789Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS110595" }, { "@id": "http://reg.genome.network/allele/PA645425746", "coordinates": [ { "allele": "A", "end": 14465, "referenceAllele": "G", "start": 14464 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "NM_032119.4:c.14366G>A" ], "proteinEffect": { "hgvs": "NP_115495.3:p.Arg4789Gln", "hgvsWellDefined": "NP_115495.3:p.Arg4789Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS526295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000405460.9:c.14366G>A" }, "RefSeq": { "hgvs": "NM_032119.4:c.14366G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384582.2:p.Arg4789Gln" }, "RefSeq": { "hgvs": "NP_115495.3:p.Arg4789Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 14479, "referenceAllele": "G", "start": 14478 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009963.2:c.14387G>A" ], "proteinEffect": { "hgvs": "XP_016865452.1:p.Arg4796Gln", "hgvsWellDefined": "XP_016865452.1:p.Arg4796Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS564136" }, { "coordinates": [ { "allele": "A", "end": 14476, "referenceAllele": "G", "start": 14475 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009964.2:c.14384G>A" ], "proteinEffect": { "hgvs": "XP_016865453.1:p.Arg4795Gln", "hgvsWellDefined": "XP_016865453.1:p.Arg4795Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS564137" }, { "coordinates": [ { "allele": "A", "end": 14484, "referenceAllele": "G", "start": 14483 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009965.1:c.14384G>A" ], "proteinEffect": { "hgvs": "XP_016865454.1:p.Arg4795Gln", "hgvsWellDefined": "XP_016865454.1:p.Arg4795Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS564138" }, { "coordinates": [ { "allele": "A", "end": 14398, "referenceAllele": "G", "start": 14397 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009966.2:c.14306G>A" ], "proteinEffect": { "hgvs": "XP_016865455.1:p.Arg4769Gln", "hgvsWellDefined": "XP_016865455.1:p.Arg4769Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS564139" }, { "coordinates": [ { "allele": "A", "end": 14391, "referenceAllele": "G", "start": 14390 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009967.1:c.14291G>A" ], "proteinEffect": { "hgvs": "XP_016865456.1:p.Arg4764Gln", "hgvsWellDefined": "XP_016865456.1:p.Arg4764Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS564140" }, { "coordinates": [ { "allele": "A", "end": 14479, "referenceAllele": "G", "start": 14478 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009968.2:c.14387G>A" ], "proteinEffect": { "hgvs": "XP_016865457.1:p.Arg4796Gln", "hgvsWellDefined": "XP_016865457.1:p.Arg4796Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS564141" }, { "coordinates": [ { "allele": "A", "end": 14479, "referenceAllele": "G", "start": 14478 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009969.2:c.14387G>A" ], "proteinEffect": { "hgvs": "XP_016865458.1:p.Arg4796Gln", "hgvsWellDefined": "XP_016865458.1:p.Arg4796Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS564142" }, { "coordinates": [ { "allele": "A", "end": 14479, "referenceAllele": "G", "start": 14478 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009970.2:c.14387G>A" ], "proteinEffect": { "hgvs": "XP_016865459.1:p.Arg4796Gln", "hgvsWellDefined": "XP_016865459.1:p.Arg4796Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS564143" }, { "coordinates": [ { "allele": "A", "end": 14479, "referenceAllele": "G", "start": 14478 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009971.2:c.14387G>A" ], "proteinEffect": { "hgvs": "XP_016865460.1:p.Arg4796Gln", "hgvsWellDefined": "XP_016865460.1:p.Arg4796Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS564144" }, { "coordinates": [ { "allele": "A", "end": 7884, "referenceAllele": "G", "start": 7883 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009972.1:c.7505G>A" ], "proteinEffect": { "hgvs": "XP_016865461.1:p.Arg2502Gln", "hgvsWellDefined": "XP_016865461.1:p.Arg2502Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS564145" }, { "coordinates": [ { "allele": "A", "end": 9095, "referenceAllele": "G", "start": 9094 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009973.1:c.7484G>A" ], "proteinEffect": { "hgvs": "XP_016865462.1:p.Arg2495Gln", "hgvsWellDefined": "XP_016865462.1:p.Arg2495Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS564146" }, { "coordinates": [ { "allele": "A", "end": 14382, "referenceAllele": "G", "start": 14381 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "NR_003149.2:n.14382G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS701829" } ], "type": "nucleotide" }