{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA6779931", "communityStandardTitle": [ "NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=441499[alleleid]", "alleleId": 441499, "preferredName": "NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/448709", "RCV": [ "RCV000517235", "RCV000765039", "RCV001241644" ], "variationId": 448709 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-110222154-C-T", "id": "12-110222154-C-T", "variant": "12:110222154 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.110222154C>T?assembly=hg19", "id": "chr12:g.110222154C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.109784349C>T?assembly=hg38", "id": "chr12:g.109784349C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/375851168", "rs": 375851168 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-110222154-C-T?dataset=gnomad_r2_1", "id": "12-110222154-C-T", "variant": "12:110222154 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-109784349-C-T?dataset=gnomad_r3", "id": "12-109784349-C-T", "variant": "12:109784349 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-109784349-C-T?dataset=gnomad_r4", "id": "12-109784349-C-T", "variant": "12:109784349 C / T" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 109784349, "referenceAllele": "C", "start": 109784348 } ], "hgvs": [ "NC_000012.12:g.109784349C>T", "CM000674.2:g.109784349C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 110222154, "referenceAllele": "C", "start": 110222153 } ], "hgvs": [ "NC_000012.11:g.110222154C>T", "CM000674.1:g.110222154C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 108706537, "referenceAllele": "C", "start": 108706536 } ], "hgvs": [ "NC_000012.10:g.108706537C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "A", "end": 54059, "referenceAllele": "G", "start": 54058 } ], "hgvs": [ "NG_017090.1:g.54059G>A", "LRG_372:g.54059G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003416" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2505, "referenceAllele": "G", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000261740.7:c.2425G>A" ], "proteinEffect": { "hgvs": "ENSP00000261740.2:p.Gly809Ser", "hgvsWellDefined": "ENSP00000261740.2:p.Gly809Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS742200", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261740.7:c.2425G>A" }, "RefSeq": { "hgvs": "NM_021625.5:c.2425G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261740.2:p.Gly809Ser" }, "RefSeq": { "hgvs": "NP_067638.3:p.Gly809Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 2520, "referenceAllele": "G", "start": 2519 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000418703.7:c.2425G>A" ], "proteinEffect": { "hgvs": "ENSP00000406191.2:p.Gly809Ser", "hgvsWellDefined": "ENSP00000406191.2:p.Gly809Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS754757" }, { "coordinates": [ { "allele": "A", "end": 2542, "referenceAllele": "G", "start": 2541 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000674908.1:c.*1512G>A" ], "proteinEffect": { "hgvs": "ENSP00000502012.1:n.*1512G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774797" }, { "coordinates": [ { "allele": "A", "end": 2874, "referenceAllele": "G", "start": 2873 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000675670.1:c.2425G>A" ], "proteinEffect": { "hgvs": "ENSP00000502135.1:p.Gly809Ser", "hgvsWellDefined": "ENSP00000502135.1:p.Gly809Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775458" }, { "coordinates": [ { "allele": "A", "end": 2508, "referenceAllele": "G", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000261740.6:c.2425G>A" ], "proteinEffect": { "hgvs": "ENSP00000261740.2:p.Gly809Ser", "hgvsWellDefined": "ENSP00000261740.2:p.Gly809Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS250832" }, { "coordinates": [ { "allele": "A", "end": 2520, "referenceAllele": "G", "start": 2519 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000418703.6:c.2425G>A" ], "proteinEffect": { "hgvs": "ENSP00000406191.2:p.Gly809Ser", "hgvsWellDefined": "ENSP00000406191.2:p.Gly809Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS285531" }, { "coordinates": [ { "allele": "A", "end": 2323, "referenceAllele": "G", "start": 2322 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000536838.1:c.2323G>A" ], "proteinEffect": { "hgvs": "ENSP00000444336.1:p.Gly775Ser", "hgvsWellDefined": "ENSP00000444336.1:p.Gly775Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS360462" }, { "coordinates": [ { "allele": "A", "end": 2245, "referenceAllele": "G", "start": 2244 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000537083.5:c.2245G>A" ], "proteinEffect": { "hgvs": "ENSP00000442738.1:p.Gly749Ser", "hgvsWellDefined": "ENSP00000442738.1:p.Gly749Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS360593" }, { "coordinates": [ { "allele": "A", "end": 2550, "referenceAllele": "G", "start": 2549 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000538125.5:c.*808G>A" ], "proteinEffect": { "hgvs": "ENSP00000437449.1:n.*808G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS361144" }, { "coordinates": [ { "allele": "A", "end": 2284, "referenceAllele": "G", "start": 2283 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000541794.5:c.2284G>A" ], "proteinEffect": { "hgvs": "ENSP00000442167.1:p.Gly762Ser", "hgvsWellDefined": "ENSP00000442167.1:p.Gly762Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS363116" }, { "coordinates": [ { "allele": "A", "end": 2104, "referenceAllele": "G", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000544971.5:c.2104G>A" ], "proteinEffect": { "hgvs": "ENSP00000443611.1:p.Gly702Ser", "hgvsWellDefined": "ENSP00000443611.1:p.Gly702Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS364851" }, { "@id": "http://reg.genome.network/allele/PA2826116030", "coordinates": [ { "allele": "A", "end": 2315, "referenceAllele": "G", "start": 2314 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "NM_001177428.1:c.2284G>A" ], "proteinEffect": { "hgvs": "NP_001170899.1:p.Gly762Ser", "hgvsWellDefined": "NP_001170899.1:p.Gly762Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS015729" }, { "@id": "http://reg.genome.network/allele/PA2826116988", "coordinates": [ { "allele": "A", "end": 2323, "referenceAllele": "G", "start": 2322 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "NM_001177431.1:c.2323G>A" ], "proteinEffect": { "hgvs": "NP_001170902.1:p.Gly775Ser", "hgvsWellDefined": "NP_001170902.1:p.Gly775Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS015730" }, { "@id": "http://reg.genome.network/allele/PA2826118169", "coordinates": [ { "allele": "A", "end": 2135, "referenceAllele": "G", "start": 2134 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "NM_001177433.1:c.2104G>A" ], "proteinEffect": { "hgvs": "NP_001170904.1:p.Gly702Ser", "hgvsWellDefined": "NP_001170904.1:p.Gly702Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS015731" }, { "@id": "http://reg.genome.network/allele/PA658680156", "coordinates": [ { "allele": "A", "end": 2514, "referenceAllele": "G", "start": 2513 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "NM_021625.4:c.2425G>A", "LRG_372t1:c.2425G>A" ], "proteinEffect": { "hgvs": "NP_067638.3:p.Gly809Ser", "hgvsWellDefined": "NP_067638.3:p.Gly809Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS036984" }, { "@id": "http://reg.genome.network/allele/PA2830286512", "coordinates": [ { "allele": "A", "end": 2276, "referenceAllele": "G", "start": 2275 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "NM_147204.2:c.2245G>A" ], "proteinEffect": { "hgvs": "NP_671737.1:p.Gly749Ser", "hgvsWellDefined": "NP_671737.1:p.Gly749Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS041634" }, { "coordinates": [ { "allele": "A", "end": 2874, "referenceAllele": "G", "start": 2873 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_005253918.1:c.2425G>A" ], "proteinEffect": { "hgvs": "XP_005253975.1:p.Gly809Ser", "hgvsWellDefined": "XP_005253975.1:p.Gly809Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS060432" }, { "coordinates": [ { "allele": "A", "end": 2562, "referenceAllele": "G", "start": 2561 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538630.1:c.2425G>A" ], "proteinEffect": { "hgvs": "XP_011536932.1:p.Gly809Ser", "hgvsWellDefined": "XP_011536932.1:p.Gly809Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS105585" }, { "coordinates": [ { "allele": "A", "end": 2422, "referenceAllele": "G", "start": 2421 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538631.1:c.2284G>A" ], "proteinEffect": { "hgvs": "XP_011536933.1:p.Gly762Ser", "hgvsWellDefined": "XP_011536933.1:p.Gly762Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS105586" }, { "coordinates": [ { "allele": "A", "end": 2383, "referenceAllele": "G", "start": 2382 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538632.1:c.2245G>A" ], "proteinEffect": { "hgvs": "XP_011536934.1:p.Gly749Ser", "hgvsWellDefined": "XP_011536934.1:p.Gly749Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS105587" }, { "coordinates": [ { "allele": "A", "end": 2242, "referenceAllele": "G", "start": 2241 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538633.1:c.2104G>A" ], "proteinEffect": { "hgvs": "XP_011536935.1:p.Gly702Ser", "hgvsWellDefined": "XP_011536935.1:p.Gly702Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS105588" }, { "coordinates": [ { "allele": "A", "end": 3617, "referenceAllele": "G", "start": 3616 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538630.2:c.2578G>A" ], "proteinEffect": { "hgvs": "XP_011536932.2:p.Gly860Ser", "hgvsWellDefined": "XP_011536932.2:p.Gly860Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS553334" }, { "coordinates": [ { "allele": "A", "end": 3477, "referenceAllele": "G", "start": 3476 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538631.2:c.2437G>A" ], "proteinEffect": { "hgvs": "XP_011536933.2:p.Gly813Ser", "hgvsWellDefined": "XP_011536933.2:p.Gly813Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS553335" }, { "coordinates": [ { "allele": "A", "end": 3438, "referenceAllele": "G", "start": 3437 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538632.2:c.2398G>A" ], "proteinEffect": { "hgvs": "XP_011536934.2:p.Gly800Ser", "hgvsWellDefined": "XP_011536934.2:p.Gly800Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS553336" }, { "coordinates": [ { "allele": "A", "end": 3297, "referenceAllele": "G", "start": 3296 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538633.2:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_011536935.2:p.Gly753Ser", "hgvsWellDefined": "XP_011536935.2:p.Gly753Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS553337" }, { "coordinates": [ { "allele": "A", "end": 3247, "referenceAllele": "G", "start": 3246 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_017019774.1:c.2425G>A" ], "proteinEffect": { "hgvs": "XP_016875263.1:p.Gly809Ser", "hgvsWellDefined": "XP_016875263.1:p.Gly809Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS571368" }, { "@id": "http://reg.genome.network/allele/PA658680156", "coordinates": [ { "allele": "A", "end": 2505, "referenceAllele": "G", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "NM_021625.5:c.2425G>A" ], "proteinEffect": { "hgvs": "NP_067638.3:p.Gly809Ser", "hgvsWellDefined": "NP_067638.3:p.Gly809Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS698429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261740.7:c.2425G>A" }, "RefSeq": { "hgvs": "NM_021625.5:c.2425G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261740.2:p.Gly809Ser" }, "RefSeq": { "hgvs": "NP_067638.3:p.Gly809Ser" } } } } ], "type": "nucleotide" }