{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16603198", "communityStandardTitle": [ "NM_032119.4(ADGRV1):c.17235T>G (p.Tyr5745Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363758[alleleid]", "alleleId": 363758, "preferredName": "NM_032119.4(ADGRV1):c.17235T>G (p.Tyr5745Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376880", "RCV": [ "RCV000417723" ], "variationId": 376880 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.90149131T>G?assembly=hg19", "id": "chr5:g.90149131T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.90853314T>G?assembly=hg38", "id": "chr5:g.90853314T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520080", "rs": 1057520080 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-90853314-T-G?dataset=gnomad_r4", "id": "5-90853314-T-G", "variant": "5:90853314 T / G" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 90853314, "referenceAllele": "T", "start": 90853313 } ], "hgvs": [ "NC_000005.10:g.90853314T>G", "CM000667.2:g.90853314T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 90149131, "referenceAllele": "T", "start": 90149130 } ], "hgvs": [ "NC_000005.9:g.90149131T>G", "CM000667.1:g.90149131T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 90184887, "referenceAllele": "T", "start": 90184886 } ], "hgvs": [ "NC_000005.8:g.90184887T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "G", "end": 299515, "referenceAllele": "T", "start": 299514 } ], "hgvs": [ "NG_007083.1:g.299515T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000463" }, { "coordinates": [ { "allele": "G", "end": 328971, "referenceAllele": "T", "start": 328970 } ], "hgvs": [ "NG_007083.2:g.328971T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS616065" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 17334, "referenceAllele": "T", "start": 17333 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000405460.9:c.17235T>G" ], "proteinEffect": { "hgvs": "ENSP00000384582.2:p.Tyr5745Ter", "hgvsWellDefined": "ENSP00000384582.2:p.Tyr5745_Leu6306delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754126", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000405460.9:c.17235T>G" }, "RefSeq": { "hgvs": "NM_032119.4:c.17235T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384582.2:p.Tyr5745Ter" }, "RefSeq": { "hgvs": "NP_115495.3:p.Tyr5745Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 6189, "referenceAllele": "T", "start": 6188 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000425867.3:c.6189T>G" ], "proteinEffect": { "hgvs": "ENSP00000392618.3:p.Tyr2063Ter", "hgvsWellDefined": "ENSP00000392618.3:p.Tyr2063_Leu2624delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755103" }, { "coordinates": [ { "allele": "G", "end": 426, "referenceAllele": "T", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000505845.2:n.426T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS758065" }, { "coordinates": [ { "allele": "G", "end": 4502, "referenceAllele": "T", "start": 4501 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000638510.1:n.4502T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS764568" }, { "coordinates": [ { "allele": "G", "end": 447, "referenceAllele": "T", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000638990.1:c.447T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS764806" }, { "coordinates": [ { "allele": "G", "end": 265, "endIntronDirection": "-", "endIntronOffset": 132029, "referenceAllele": "T", "start": 265, "startIntronDirection": "-", "startIntronOffset": 132030 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000639431.1:c.266-132030T>G" ], "proteinEffect": { "hgvs": "ENSP00000491057.1:n.266-132030T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS765023" }, { "coordinates": [ { "allele": "G", "end": 3684, "referenceAllele": "T", "start": 3683 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000640407.1:c.3684T>G" ], "proteinEffect": { "hgvs": "ENSP00000491425.1:n.3684T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS765482" }, { "coordinates": [ { "allele": "G", "end": 17331, "referenceAllele": "T", "start": 17330 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000405460.6:c.17235T>G" ], "proteinEffect": { "hgvs": "ENSP00000384582.2:p.Tyr5745Ter", "hgvsWellDefined": "ENSP00000384582.2:p.Tyr5745_Leu6306delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280355" }, { "coordinates": [ { "allele": "G", "end": 4502, "referenceAllele": "T", "start": 4501 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000425867.2:c.4218T>G" ], "proteinEffect": { "hgvs": "ENSP00000392618.2:p.Tyr1406Ter", "hgvsWellDefined": "ENSP00000392618.2:p.Tyr1406_Leu1967delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS288957" }, { "@id": "http://reg.genome.network/allele/PA645425921", "coordinates": [ { "allele": "G", "end": 17331, "referenceAllele": "T", "start": 17330 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "NM_032119.3:c.17235T>G" ], "proteinEffect": { "hgvs": "NP_115495.3:p.Tyr5745Ter", "hgvsWellDefined": "NP_115495.3:p.Tyr5745_Leu6306delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038850" }, { "coordinates": [ { "allele": "G", "end": 17248, "referenceAllele": "T", "start": 17247 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "NR_003149.1:n.17248T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS046177" }, { "coordinates": [ { "allele": "G", "end": 17323, "referenceAllele": "T", "start": 17322 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_011543675.1:c.17232T>G" ], "proteinEffect": { "hgvs": "XP_011541977.1:p.Tyr5744Ter", "hgvsWellDefined": "XP_011541977.1:p.Tyr5744_Leu6305delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110592" }, { "coordinates": [ { "allele": "G", "end": 17245, "referenceAllele": "T", "start": 17244 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_011543676.1:c.17154T>G" ], "proteinEffect": { "hgvs": "XP_011541978.1:p.Tyr5718Ter", "hgvsWellDefined": "XP_011541978.1:p.Tyr5718_Leu6279delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110593" }, { "coordinates": [ { "allele": "G", "end": 15145, "referenceAllele": "T", "start": 15144 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_011543677.1:c.14538T>G" ], "proteinEffect": { "hgvs": "XP_011541979.1:p.Tyr4846Ter", "hgvsWellDefined": "XP_011541979.1:p.Tyr4846_Leu5407delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110594" }, { "@id": "http://reg.genome.network/allele/PA645425921", "coordinates": [ { "allele": "G", "end": 17334, "referenceAllele": "T", "start": 17333 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "NM_032119.4:c.17235T>G" ], "proteinEffect": { "hgvs": "NP_115495.3:p.Tyr5745Ter", "hgvsWellDefined": "NP_115495.3:p.Tyr5745_Leu6306delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000405460.9:c.17235T>G" }, "RefSeq": { "hgvs": "NM_032119.4:c.17235T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384582.2:p.Tyr5745Ter" }, "RefSeq": { "hgvs": "NP_115495.3:p.Tyr5745Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 17348, "referenceAllele": "T", "start": 17347 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009963.2:c.17256T>G" ], "proteinEffect": { "hgvs": "XP_016865452.1:p.Tyr5752Ter", "hgvsWellDefined": "XP_016865452.1:p.Tyr5752_Leu6313delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564136" }, { "coordinates": [ { "allele": "G", "end": 17345, "referenceAllele": "T", "start": 17344 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009964.2:c.17253T>G" ], "proteinEffect": { "hgvs": "XP_016865453.1:p.Tyr5751Ter", "hgvsWellDefined": "XP_016865453.1:p.Tyr5751_Leu6312delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564137" }, { "coordinates": [ { "allele": "G", "end": 17353, "referenceAllele": "T", "start": 17352 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009965.1:c.17253T>G" ], "proteinEffect": { "hgvs": "XP_016865454.1:p.Tyr5751Ter", "hgvsWellDefined": "XP_016865454.1:p.Tyr5751_Leu6312delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564138" }, { "coordinates": [ { "allele": "G", "end": 17267, "referenceAllele": "T", "start": 17266 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009966.2:c.17175T>G" ], "proteinEffect": { "hgvs": "XP_016865455.1:p.Tyr5725Ter", "hgvsWellDefined": "XP_016865455.1:p.Tyr5725_Leu6286delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564139" }, { "coordinates": [ { "allele": "G", "end": 17260, "referenceAllele": "T", "start": 17259 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009967.1:c.17160T>G" ], "proteinEffect": { "hgvs": "XP_016865456.1:p.Tyr5720Ter", "hgvsWellDefined": "XP_016865456.1:p.Tyr5720_Leu6281delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564140" }, { "coordinates": [ { "allele": "G", "end": 17168, "referenceAllele": "T", "start": 17167 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009968.2:c.17076T>G" ], "proteinEffect": { "hgvs": "XP_016865457.1:p.Tyr5692Ter", "hgvsWellDefined": "XP_016865457.1:p.Tyr5692_Leu6253delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564141" }, { "coordinates": [ { "allele": "G", "end": 17348, "referenceAllele": "T", "start": 17347 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009969.2:c.17256T>G" ], "proteinEffect": { "hgvs": "XP_016865458.1:p.Tyr5752Ter", "hgvsWellDefined": "XP_016865458.1:p.Tyr5752_Pro6171delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnValLeuValSerValSerValIleMetAsnLeuValLysAlaAlaArgArgGlyAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564142" }, { "coordinates": [ { "allele": "G", "end": 10753, "referenceAllele": "T", "start": 10752 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009972.1:c.10374T>G" ], "proteinEffect": { "hgvs": "XP_016865461.1:p.Tyr3458Ter", "hgvsWellDefined": "XP_016865461.1:p.Tyr3458_Leu4019delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564145" }, { "coordinates": [ { "allele": "G", "end": 11964, "referenceAllele": "T", "start": 11963 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009973.1:c.10353T>G" ], "proteinEffect": { "hgvs": "XP_016865462.1:p.Tyr3451Ter", "hgvsWellDefined": "XP_016865462.1:p.Tyr3451_Leu4012delinsLeuSerIleLeuAlaLeuHisTrpTyrProGlnGlnIleAsnGlyHisLysPheGluGlyLysGluGlyAspTyrIleArgIleProGluArgLeuLeuAspValGlnAspAlaGluIleMetAlaGlyLysSerThrCysLysLeuValGlnPheThrGluTyrSerSerGlnGlnTrpPheIleSerGlyAsnAsnLeuProThrLeuLysAsnLysValLeuSerLeuSerValLysGlyGlnSerSerGlnLeuLeuThrAsnAspAsnGluValLeuTyrArgIleTyrAlaAlaGluProArgIleIleProGlnThrSerLeuCysLeuLeuTrpAsnGlnAlaAlaAlaSerTrpLeuSerAspSerGlnPheCysLysValValGluGluThrAlaAspTyrValGluCysAlaCysSerHisMetSerValTyrAlaValTyrAlaArgThrAspAsnLeuSerSerTyrAsnGluAlaPhePheThrSerGlyPheIleCysIleSerGlyLeuCysLeuAlaValLeuSerHisIlePheCysAlaArgTyrSerMetPheAlaAlaLysLeuLeuThrHisMetMetAlaAlaSerLeuGlyThrGlnIleLeuPheLeuAlaSerAlaTyrAlaSerProGlnLeuAlaGluGluSerCysSerAlaMetAlaAlaValThrHisTyrLeuTyrLeuCysGlnPheSerTrpMetLeuIleGlnSerValAsnPheTrpTyrValLeuValMetAsnAspGluHisThrGluArgArgTyrLeuLeuPhePheLeuLeuSerTrpGlyLeuProAlaPheValValIleLeuLeuIleValIleLeuLysGlyIleTyrHisGlnSerMetSerGlnIleTyrGlyLeuIleHisGlyAspLeuCysPheIleProAsnValTyrAlaAlaLeuPheThrAlaAlaLeuValProLeuThrCysLeuValValValPheValValPheIleHisAlaTyrGlnValLysProGlnTrpLysAlaTyrAspAspValPheArgGlyArgThrAsnAlaAlaGluIleProLeuIleLeuTyrLeuPheAlaLeuIleSerValThrTrpLeuTrpGlyGlyLeuHisMetAlaTyrArgHisPheTrpMetLeuValLeuPheValIlePheAsnSerLeuGlnGlyLeuTyrValPheMetValTyrPheIleLeuHisAsnGlnMetCysCysProMetLysAlaSerTyrThrValGluMetAsnGlyHisProGlyProSerThrAlaPhePheThrProGlySerGlyMetProProAlaGlyGlyGluIleSerLysSerThrGlnAsnLeuIleGlyAlaMetGluGluValProProAspTrpGluArgAlaSerPheGlnGlnGlySerGlnAlaSerProAspLeuLysProSerProGlnAsnGlyAlaThrPheProSerSerGlyGlyTyrGlyGlnGlySerLeuIleAlaAspGluGluSerGlnGluPheAspAspLeuIlePheAlaLeuLysThrGlyAlaGlyLeuSerValSerAspAsnGluSerGlyGlnGlySerGlnGluGlyGlyThrLeuThrAspSerGlnIleValGluLeuArgArgIleProIleAlaAspThrHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564146" }, { "coordinates": [ { "allele": "G", "end": 17251, "referenceAllele": "T", "start": 17250 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "NR_003149.2:n.17251T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS701829" } ], "type": "nucleotide" }