{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351641499", "communityStandardTitle": [ "NM_001378452.1(ITPR1):c.1531A>G (p.Arg511Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=969345[alleleid]", "alleleId": 969345, "preferredName": "NM_001378452.1(ITPR1):c.1531A>G (p.Arg511Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/981273", "RCV": [ "RCV001260628" ], "variationId": 981273 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.4704867A>G?assembly=hg19", "id": "chr3:g.4704867A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.4663183A>G?assembly=hg38", "id": "chr3:g.4663183A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2093873717", "rs": 2093873717 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 4663183, "referenceAllele": "A", "start": 4663182 } ], "hgvs": [ "NC_000003.12:g.4663183A>G", "CM000665.2:g.4663183A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 4704867, "referenceAllele": "A", "start": 4704866 } ], "hgvs": [ "NC_000003.11:g.4704867A>G", "CM000665.1:g.4704867A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 4679867, "referenceAllele": "A", "start": 4679866 } ], "hgvs": [ "NC_000003.10:g.4679867A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "G", "end": 174836, "referenceAllele": "A", "start": 174835 } ], "hgvs": [ "NG_016144.1:g.174836A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002976" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1531, "referenceAllele": "A", "start": 1530 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000302640.13:c.1531A>G" ], "proteinEffect": { "hgvs": "ENSP00000306253.9:p.Arg511Gly", "hgvsWellDefined": "ENSP00000306253.9:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS823751" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000354582.12:c.1531A>G" ], "proteinEffect": { "hgvs": "ENSP00000346595.8:p.Arg511Gly", "hgvsWellDefined": "ENSP00000346595.8:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS824075" }, { "coordinates": [ { "allele": "G", "end": 1731, "referenceAllele": "A", "start": 1730 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000443694.5:c.1486A>G" ], "proteinEffect": { "hgvs": "ENSP00000401671.2:p.Arg496Gly", "hgvsWellDefined": "ENSP00000401671.2:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS824944" }, { "coordinates": [ { "allele": "G", "end": 1859, "referenceAllele": "A", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000354582.11:c.1531A>G" ], "proteinEffect": { "hgvs": "ENSP00000346595.8:p.Arg511Gly", "hgvsWellDefined": "ENSP00000346595.8:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS748579" }, { "coordinates": [ { "allele": "G", "end": 1884, "referenceAllele": "A", "start": 1883 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000357086.10:c.1531A>G" ], "proteinEffect": { "hgvs": "ENSP00000349597.4:p.Arg511Gly", "hgvsWellDefined": "ENSP00000349597.4:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS748891" }, { "coordinates": [ { "allele": "G", "end": 1486, "referenceAllele": "A", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000443694.4:c.1486A>G" ], "proteinEffect": { "hgvs": "ENSP00000401671.2:p.Arg496Gly", "hgvsWellDefined": "ENSP00000401671.2:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS755960" }, { "coordinates": [ { "allele": "G", "end": 1732, "referenceAllele": "A", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000456211.8:c.1486A>G" ], "proteinEffect": { "hgvs": "ENSP00000397885.2:p.Arg496Gly", "hgvsWellDefined": "ENSP00000397885.2:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS756549" }, { "coordinates": [ { "allele": "G", "end": 1648, "referenceAllele": "A", "start": 1647 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000477577.2:n.1648A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS757225" }, { "coordinates": [ { "allele": "G", "end": 1144, "endIntronDirection": "+", "endIntronOffset": 9297, "referenceAllele": "A", "start": 1144, "startIntronDirection": "+", "startIntronOffset": 9296 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000544951.6:c.996+9297A>G" ], "proteinEffect": { "hgvs": "ENSP00000440564.1:n.996+9297A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS759786" }, { "coordinates": [ { "allele": "G", "end": 1775, "referenceAllele": "A", "start": 1774 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000648266.1:c.1531A>G" ], "proteinEffect": { "hgvs": "ENSP00000498014.1:p.Arg511Gly", "hgvsWellDefined": "ENSP00000498014.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS769873" }, { "coordinates": [ { "allele": "G", "end": 1491, "referenceAllele": "A", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000648309.1:c.1486A>G" ], "proteinEffect": { "hgvs": "ENSP00000497026.1:p.Arg496Gly", "hgvsWellDefined": "ENSP00000497026.1:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS769900" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000649015.2:c.1531A>G" ], "proteinEffect": { "hgvs": "ENSP00000497605.1:p.Arg511Gly", "hgvsWellDefined": "ENSP00000497605.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS770307", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649015.2:c.1531A>G" }, "RefSeq": { "hgvs": "NM_001378452.1:c.1531A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497605.1:p.Arg511Gly" }, "RefSeq": { "hgvs": "NP_001365381.1:p.Arg511Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 1207, "referenceAllele": "A", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000649051.1:c.1207A>G" ], "proteinEffect": { "hgvs": "ENSP00000497851.1:p.Arg403Gly", "hgvsWellDefined": "ENSP00000497851.1:p.Arg403Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS770321" }, { "coordinates": [ { "allele": "G", "end": 1623, "referenceAllele": "A", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000650294.1:c.1486A>G" ], "proteinEffect": { "hgvs": "ENSP00000498056.1:p.Arg496Gly", "hgvsWellDefined": "ENSP00000498056.1:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS771041" }, { "coordinates": [ { "allele": "G", "end": 1836, "referenceAllele": "A", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000302640.12:c.1486A>G" ], "proteinEffect": { "hgvs": "ENSP00000306253.8:p.Arg496Gly", "hgvsWellDefined": "ENSP00000306253.8:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS255217" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000354582.10:c.1531A>G" ], "proteinEffect": { "hgvs": "ENSP00000346595.7:p.Arg511Gly", "hgvsWellDefined": "ENSP00000346595.7:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS263174" }, { "coordinates": [ { "allele": "G", "end": 1879, "referenceAllele": "A", "start": 1878 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000357086.9:c.1531A>G" ], "proteinEffect": { "hgvs": "ENSP00000349597.4:p.Arg511Gly", "hgvsWellDefined": "ENSP00000349597.4:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS263981" }, { "coordinates": [ { "allele": "G", "end": 1486, "referenceAllele": "A", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000443694.3:c.1486A>G" ], "proteinEffect": { "hgvs": "ENSP00000401671.2:p.Arg496Gly", "hgvsWellDefined": "ENSP00000401671.2:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS297462" }, { "coordinates": [ { "allele": "G", "end": 1834, "referenceAllele": "A", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000456211.7:c.1486A>G" ], "proteinEffect": { "hgvs": "ENSP00000397885.2:p.Arg496Gly", "hgvsWellDefined": "ENSP00000397885.2:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS303385" }, { "coordinates": [ { "allele": "G", "end": 1216, "referenceAllele": "A", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000477577.1:n.1216A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS318360" }, { "coordinates": [ { "allele": "G", "end": 1346, "endIntronDirection": "+", "endIntronOffset": 9297, "referenceAllele": "A", "start": 1346, "startIntronDirection": "+", "startIntronOffset": 9296 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "ENST00000544951.5:c.996+9297A>G" ], "proteinEffect": { "hgvs": "ENSP00000440564.1:n.996+9297A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS364840" }, { "@id": "http://reg.genome.network/allele/PA2825504221", "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "NM_001099952.2:c.1531A>G" ], "proteinEffect": { "hgvs": "NP_001093422.2:p.Arg511Gly", "hgvsWellDefined": "NP_001093422.2:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010841" }, { "@id": "http://reg.genome.network/allele/PA2826053193", "coordinates": [ { "allele": "G", "end": 1836, "referenceAllele": "A", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "NM_001168272.1:c.1486A>G" ], "proteinEffect": { "hgvs": "NP_001161744.1:p.Arg496Gly", "hgvsWellDefined": "NP_001161744.1:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS015062" }, { "@id": "http://reg.genome.network/allele/PA2829365330", "coordinates": [ { "allele": "G", "end": 1836, "referenceAllele": "A", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "NM_002222.5:c.1486A>G" ], "proteinEffect": { "hgvs": "NP_002213.5:p.Arg496Gly", "hgvsWellDefined": "NP_002213.5:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS027541" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_005265109.2:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_005265166.1:p.Arg511Gly", "hgvsWellDefined": "XP_005265166.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS064514" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_005265110.2:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_005265167.1:p.Arg511Gly", "hgvsWellDefined": "XP_005265167.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS064515" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_006713131.2:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_006713194.1:p.Arg511Gly", "hgvsWellDefined": "XP_006713194.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS070022" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533681.1:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531983.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531983.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS100702" }, { "coordinates": [ { "allele": "G", "end": 1850, "referenceAllele": "A", "start": 1849 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533682.1:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531984.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531984.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS100703" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533683.1:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531985.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531985.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS100704" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533684.1:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531986.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531986.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS100705" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533685.1:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531987.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531987.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS100706" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533686.1:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531988.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531988.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS100707" }, { "coordinates": [ { "allele": "G", "end": 1836, "referenceAllele": "A", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533687.1:c.1486A>G" ], "proteinEffect": { "hgvs": "XP_011531989.1:p.Arg496Gly", "hgvsWellDefined": "XP_011531989.1:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS100708" }, { "coordinates": [ { "allele": "G", "end": 1836, "referenceAllele": "A", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533688.1:c.1486A>G" ], "proteinEffect": { "hgvs": "XP_011531990.1:p.Arg496Gly", "hgvsWellDefined": "XP_011531990.1:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS100709" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533689.1:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531991.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531991.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS100710" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533690.1:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531992.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531992.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS100711" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533691.1:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531993.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531993.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS100712" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533692.1:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531994.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531994.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS100713" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_005265109.3:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_005265166.1:p.Arg511Gly", "hgvsWellDefined": "XP_005265166.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS536004" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_005265110.3:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_005265167.1:p.Arg511Gly", "hgvsWellDefined": "XP_005265167.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS536005" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_006713131.3:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_006713194.1:p.Arg511Gly", "hgvsWellDefined": "XP_006713194.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS538441" }, { "coordinates": [ { "allele": "G", "end": 1807, "referenceAllele": "A", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533682.3:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531984.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531984.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS551343" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533683.3:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531985.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531985.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS551344" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533684.2:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531986.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531986.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS551345" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533685.2:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531987.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531987.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS551346" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533686.2:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531988.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531988.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS551347" }, { "coordinates": [ { "allele": "G", "end": 1836, "referenceAllele": "A", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533687.2:c.1486A>G" ], "proteinEffect": { "hgvs": "XP_011531989.1:p.Arg496Gly", "hgvsWellDefined": "XP_011531989.1:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS551348" }, { "coordinates": [ { "allele": "G", "end": 1836, "referenceAllele": "A", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533688.2:c.1486A>G" ], "proteinEffect": { "hgvs": "XP_011531990.1:p.Arg496Gly", "hgvsWellDefined": "XP_011531990.1:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS551349" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533690.2:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531992.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531992.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS551350" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_011533692.2:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_011531994.1:p.Arg511Gly", "hgvsWellDefined": "XP_011531994.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS551351" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_017006357.2:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_016861846.1:p.Arg511Gly", "hgvsWellDefined": "XP_016861846.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS561414" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "XM_017006358.1:c.1531A>G" ], "proteinEffect": { "hgvs": "XP_016861847.1:p.Arg511Gly", "hgvsWellDefined": "XP_016861847.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS561415" }, { "@id": "http://reg.genome.network/allele/PA2825504221", "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "NM_001099952.3:c.1531A>G" ], "proteinEffect": { "hgvs": "NP_001093422.2:p.Arg511Gly", "hgvsWellDefined": "NP_001093422.2:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS676534" }, { "@id": "http://reg.genome.network/allele/PA2829365330", "coordinates": [ { "allele": "G", "end": 1836, "referenceAllele": "A", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "NM_002222.6:c.1486A>G" ], "proteinEffect": { "hgvs": "NP_002213.5:p.Arg496Gly", "hgvsWellDefined": "NP_002213.5:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS695483" }, { "@id": "http://reg.genome.network/allele/PA2825504221", "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "NM_001099952.4:c.1531A>G" ], "proteinEffect": { "hgvs": "NP_001093422.2:p.Arg511Gly", "hgvsWellDefined": "NP_001093422.2:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711995" }, { "@id": "http://reg.genome.network/allele/PA2826053193", "coordinates": [ { "allele": "G", "end": 1836, "referenceAllele": "A", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "NM_001168272.2:c.1486A>G" ], "proteinEffect": { "hgvs": "NP_001161744.1:p.Arg496Gly", "hgvsWellDefined": "NP_001161744.1:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS713279" }, { "@id": "http://reg.genome.network/allele/PA1139744702", "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "NM_001378452.1:c.1531A>G" ], "proteinEffect": { "hgvs": "NP_001365381.1:p.Arg511Gly", "hgvsWellDefined": "NP_001365381.1:p.Arg511Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS721704", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649015.2:c.1531A>G" }, "RefSeq": { "hgvs": "NM_001378452.1:c.1531A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497605.1:p.Arg511Gly" }, "RefSeq": { "hgvs": "NP_001365381.1:p.Arg511Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2829365330", "coordinates": [ { "allele": "G", "end": 1836, "referenceAllele": "A", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN006180", "geneNCBI_id": 3708, "geneSymbol": "ITPR1", "hgvs": [ "NM_002222.7:c.1486A>G" ], "proteinEffect": { "hgvs": "NP_002213.5:p.Arg496Gly", "hgvsWellDefined": "NP_002213.5:p.Arg496Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS727258" } ], "type": "nucleotide" }