{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA259821", "communityStandardTitle": [ "NM_021625.5(TRPV4):c.947G>A (p.Arg316His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39430[alleleid]", "alleleId": 39430, "preferredName": "NM_021625.5(TRPV4):c.947G>A (p.Arg316His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30473", "RCV": [ "RCV000023430", "RCV000202476", "RCV000415397", "RCV000497541", "RCV000856932" ], "variationId": 30473 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.110236624C>T?assembly=hg19", "id": "chr12:g.110236624C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.109798819C>T?assembly=hg38", "id": "chr12:g.109798819C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/387906905", "rs": 387906905 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 109798819, "referenceAllele": "C", "start": 109798818 } ], "hgvs": [ "NC_000012.12:g.109798819C>T", "CM000674.2:g.109798819C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 110236624, "referenceAllele": "C", "start": 110236623 } ], "hgvs": [ "NC_000012.11:g.110236624C>T", "CM000674.1:g.110236624C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 108721007, "referenceAllele": "C", "start": 108721006 } ], "hgvs": [ "NC_000012.10:g.108721007C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "A", "end": 39589, "referenceAllele": "G", "start": 39588 } ], "hgvs": [ "NG_017090.1:g.39589G>A", "LRG_372:g.39589G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003416" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1027, "referenceAllele": "G", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000261740.7:c.947G>A" ], "proteinEffect": { "hgvs": "ENSP00000261740.2:p.Arg316His", "hgvsWellDefined": "ENSP00000261740.2:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS742200", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261740.7:c.947G>A" }, "RefSeq": { "hgvs": "NM_021625.5:c.947G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261740.2:p.Arg316His" }, "RefSeq": { "hgvs": "NP_067638.3:p.Arg316His" } } } }, { "coordinates": [ { "allele": "A", "end": 1042, "referenceAllele": "G", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000418703.7:c.947G>A" ], "proteinEffect": { "hgvs": "ENSP00000406191.2:p.Arg316His", "hgvsWellDefined": "ENSP00000406191.2:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS754757" }, { "coordinates": [ { "allele": "A", "end": 1064, "referenceAllele": "G", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000674908.1:c.*34G>A" ], "proteinEffect": { "hgvs": "ENSP00000502012.1:n.*34G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774797" }, { "coordinates": [ { "allele": "A", "end": 978, "referenceAllele": "G", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000675533.1:n.978G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775338" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "G", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000675670.1:c.947G>A" ], "proteinEffect": { "hgvs": "ENSP00000502135.1:p.Arg316His", "hgvsWellDefined": "ENSP00000502135.1:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775458" }, { "coordinates": [ { "allele": "A", "end": 978, "referenceAllele": "G", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000676376.1:n.978G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776066" }, { "coordinates": [ { "allele": "A", "end": 1030, "referenceAllele": "G", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000261740.6:c.947G>A" ], "proteinEffect": { "hgvs": "ENSP00000261740.2:p.Arg316His", "hgvsWellDefined": "ENSP00000261740.2:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS250832" }, { "coordinates": [ { "allele": "A", "end": 1042, "referenceAllele": "G", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000418703.6:c.947G>A" ], "proteinEffect": { "hgvs": "ENSP00000406191.2:p.Arg316His", "hgvsWellDefined": "ENSP00000406191.2:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS285531" }, { "coordinates": [ { "allele": "A", "end": 845, "referenceAllele": "G", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000536838.1:c.845G>A" ], "proteinEffect": { "hgvs": "ENSP00000444336.1:p.Arg282His", "hgvsWellDefined": "ENSP00000444336.1:p.Arg282His" }, "referenceSequence": "http://reg.genome.network/refseq/RS360462" }, { "coordinates": [ { "allele": "A", "end": 947, "referenceAllele": "G", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000537083.5:c.947G>A" ], "proteinEffect": { "hgvs": "ENSP00000442738.1:p.Arg316His", "hgvsWellDefined": "ENSP00000442738.1:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS360593" }, { "coordinates": [ { "allele": "A", "end": 1030, "referenceAllele": "G", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000538125.5:c.947G>A" ], "proteinEffect": { "hgvs": "ENSP00000437449.1:p.Arg316His", "hgvsWellDefined": "ENSP00000437449.1:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS361144" }, { "coordinates": [ { "allele": "A", "end": 806, "referenceAllele": "G", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000541794.5:c.806G>A" ], "proteinEffect": { "hgvs": "ENSP00000442167.1:p.Arg269His", "hgvsWellDefined": "ENSP00000442167.1:p.Arg269His" }, "referenceSequence": "http://reg.genome.network/refseq/RS363116" }, { "coordinates": [ { "allele": "A", "end": 806, "referenceAllele": "G", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "ENST00000544971.5:c.806G>A" ], "proteinEffect": { "hgvs": "ENSP00000443611.1:p.Arg269His", "hgvsWellDefined": "ENSP00000443611.1:p.Arg269His" }, "referenceSequence": "http://reg.genome.network/refseq/RS364851" }, { "@id": "http://reg.genome.network/allele/PA2826115453", "coordinates": [ { "allele": "A", "end": 837, "referenceAllele": "G", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "NM_001177428.1:c.806G>A" ], "proteinEffect": { "hgvs": "NP_001170899.1:p.Arg269His", "hgvsWellDefined": "NP_001170899.1:p.Arg269His" }, "referenceSequence": "http://reg.genome.network/refseq/RS015729" }, { "@id": "http://reg.genome.network/allele/PA2826116423", "coordinates": [ { "allele": "A", "end": 845, "referenceAllele": "G", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "NM_001177431.1:c.845G>A" ], "proteinEffect": { "hgvs": "NP_001170902.1:p.Arg282His", "hgvsWellDefined": "NP_001170902.1:p.Arg282His" }, "referenceSequence": "http://reg.genome.network/refseq/RS015730" }, { "@id": "http://reg.genome.network/allele/PA2826117557", "coordinates": [ { "allele": "A", "end": 837, "referenceAllele": "G", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "NM_001177433.1:c.806G>A" ], "proteinEffect": { "hgvs": "NP_001170904.1:p.Arg269His", "hgvsWellDefined": "NP_001170904.1:p.Arg269His" }, "referenceSequence": "http://reg.genome.network/refseq/RS015731" }, { "@id": "http://reg.genome.network/allele/PA108391", "coordinates": [ { "allele": "A", "end": 1036, "referenceAllele": "G", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "NM_021625.4:c.947G>A", "LRG_372t1:c.947G>A" ], "proteinEffect": { "hgvs": "NP_067638.3:p.Arg316His", "hgvsWellDefined": "NP_067638.3:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS036984" }, { "@id": "http://reg.genome.network/allele/PA916078396", "coordinates": [ { "allele": "A", "end": 978, "referenceAllele": "G", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "NM_147204.2:c.947G>A" ], "proteinEffect": { "hgvs": "NP_671737.1:p.Arg316His", "hgvsWellDefined": "NP_671737.1:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS041634" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "G", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_005253918.1:c.947G>A" ], "proteinEffect": { "hgvs": "XP_005253975.1:p.Arg316His", "hgvsWellDefined": "XP_005253975.1:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS060432" }, { "coordinates": [ { "allele": "A", "end": 1084, "referenceAllele": "G", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538630.1:c.947G>A" ], "proteinEffect": { "hgvs": "XP_011536932.1:p.Arg316His", "hgvsWellDefined": "XP_011536932.1:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS105585" }, { "coordinates": [ { "allele": "A", "end": 944, "referenceAllele": "G", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538631.1:c.806G>A" ], "proteinEffect": { "hgvs": "XP_011536933.1:p.Arg269His", "hgvsWellDefined": "XP_011536933.1:p.Arg269His" }, "referenceSequence": "http://reg.genome.network/refseq/RS105586" }, { "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "G", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538632.1:c.947G>A" ], "proteinEffect": { "hgvs": "XP_011536934.1:p.Arg316His", "hgvsWellDefined": "XP_011536934.1:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS105587" }, { "coordinates": [ { "allele": "A", "end": 944, "referenceAllele": "G", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538633.1:c.806G>A" ], "proteinEffect": { "hgvs": "XP_011536935.1:p.Arg269His", "hgvsWellDefined": "XP_011536935.1:p.Arg269His" }, "referenceSequence": "http://reg.genome.network/refseq/RS105588" }, { "coordinates": [ { "allele": "A", "end": 1088, "referenceAllele": "G", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538634.1:c.947G>A" ], "proteinEffect": { "hgvs": "XP_011536936.1:p.Arg316His", "hgvsWellDefined": "XP_011536936.1:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS105589" }, { "coordinates": [ { "allele": "A", "end": 1205, "referenceAllele": "G", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538635.1:c.1100G>A" ], "proteinEffect": { "hgvs": "XP_011536937.1:p.Arg367His", "hgvsWellDefined": "XP_011536937.1:p.Arg367His" }, "referenceSequence": "http://reg.genome.network/refseq/RS105590" }, { "coordinates": [ { "allele": "A", "end": 1205, "referenceAllele": "G", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538636.1:c.1100G>A" ], "proteinEffect": { "hgvs": "XP_011536938.1:p.Arg367His", "hgvsWellDefined": "XP_011536938.1:p.Arg367His" }, "referenceSequence": "http://reg.genome.network/refseq/RS105591" }, { "coordinates": [ { "allele": "A", "end": 2139, "referenceAllele": "G", "start": 2138 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538630.2:c.1100G>A" ], "proteinEffect": { "hgvs": "XP_011536932.2:p.Arg367His", "hgvsWellDefined": "XP_011536932.2:p.Arg367His" }, "referenceSequence": "http://reg.genome.network/refseq/RS553334" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538631.2:c.959G>A" ], "proteinEffect": { "hgvs": "XP_011536933.2:p.Arg320His", "hgvsWellDefined": "XP_011536933.2:p.Arg320His" }, "referenceSequence": "http://reg.genome.network/refseq/RS553335" }, { "coordinates": [ { "allele": "A", "end": 2140, "referenceAllele": "G", "start": 2139 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538632.2:c.1100G>A" ], "proteinEffect": { "hgvs": "XP_011536934.2:p.Arg367His", "hgvsWellDefined": "XP_011536934.2:p.Arg367His" }, "referenceSequence": "http://reg.genome.network/refseq/RS553336" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538633.2:c.959G>A" ], "proteinEffect": { "hgvs": "XP_011536935.2:p.Arg320His", "hgvsWellDefined": "XP_011536935.2:p.Arg320His" }, "referenceSequence": "http://reg.genome.network/refseq/RS553337" }, { "coordinates": [ { "allele": "A", "end": 2141, "referenceAllele": "G", "start": 2140 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538634.2:c.1100G>A" ], "proteinEffect": { "hgvs": "XP_011536936.2:p.Arg367His", "hgvsWellDefined": "XP_011536936.2:p.Arg367His" }, "referenceSequence": "http://reg.genome.network/refseq/RS553338" }, { "coordinates": [ { "allele": "A", "end": 2143, "referenceAllele": "G", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_011538635.2:c.1100G>A" ], "proteinEffect": { "hgvs": "XP_011536937.1:p.Arg367His", "hgvsWellDefined": "XP_011536937.1:p.Arg367His" }, "referenceSequence": "http://reg.genome.network/refseq/RS553339" }, { "coordinates": [ { "allele": "A", "end": 1769, "referenceAllele": "G", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "XM_017019774.1:c.947G>A" ], "proteinEffect": { "hgvs": "XP_016875263.1:p.Arg316His", "hgvsWellDefined": "XP_016875263.1:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS571368" }, { "@id": "http://reg.genome.network/allele/PA108391", "coordinates": [ { "allele": "A", "end": 1027, "referenceAllele": "G", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN018083", "geneNCBI_id": 59341, "geneSymbol": "TRPV4", "hgvs": [ "NM_021625.5:c.947G>A" ], "proteinEffect": { "hgvs": "NP_067638.3:p.Arg316His", "hgvsWellDefined": "NP_067638.3:p.Arg316His" }, "referenceSequence": "http://reg.genome.network/refseq/RS698429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261740.7:c.947G>A" }, "RefSeq": { "hgvs": "NM_021625.5:c.947G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261740.2:p.Arg316His" }, "RefSeq": { "hgvs": "NP_067638.3:p.Arg316His" } } } } ], "type": "nucleotide" }