{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA354157556", "communityStandardTitle": [ "NM_000388.4(CASR):c.1837G>A (p.Gly613Arg)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1693316", "active": true, "id": "COSM1693316" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=421414[alleleid]", "alleleId": 421414, "preferredName": "NM_000388.4(CASR):c.1837G>A (p.Gly613Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/430216", "RCV": [ "RCV000494527" ], "variationId": 430216 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.122002638G>A?assembly=hg19", "id": "chr3:g.122002638G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.122283791G>A?assembly=hg38", "id": "chr3:g.122283791G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060502842", "rs": 1060502842 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-122283791-G-A?dataset=gnomad_r3", "id": "3-122283791-G-A", "variant": "3:122283791 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-122283791-G-A?dataset=gnomad_r4", "id": "3-122283791-G-A", "variant": "3:122283791 G / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 122283791, "referenceAllele": "G", "start": 122283790 } ], "hgvs": [ "NC_000003.12:g.122283791G>A", "CM000665.2:g.122283791G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 122002638, "referenceAllele": "G", "start": 122002637 } ], "hgvs": [ "NC_000003.11:g.122002638G>A", "CM000665.1:g.122002638G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 123485328, "referenceAllele": "G", "start": 123485327 } ], "hgvs": [ "NC_000003.10:g.123485328G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 105109, "referenceAllele": "G", "start": 105108 } ], "hgvs": [ "NG_009058.1:g.105109G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001400" }, { "coordinates": [ { "allele": "A", "end": 105124, "referenceAllele": "G", "start": 105123 } ], "hgvs": [ "NG_009058.2:g.105124G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706091" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1848, "referenceAllele": "G", "start": 1847 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "ENST00000490131.7:c.1606G>A" ], "proteinEffect": { "hgvs": "ENSP00000418685.2:p.Gly536Arg", "hgvsWellDefined": "ENSP00000418685.2:p.Gly536Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS757629" }, { "coordinates": [ { "allele": "A", "end": 2305, "referenceAllele": "G", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "ENST00000498619.4:c.1867G>A" ], "proteinEffect": { "hgvs": "ENSP00000420194.1:p.Gly623Arg", "hgvsWellDefined": "ENSP00000420194.1:p.Gly623Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS757906" }, { "coordinates": [ { "allele": "A", "end": 2376, "referenceAllele": "G", "start": 2375 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "ENST00000638421.1:c.1837G>A" ], "proteinEffect": { "hgvs": "ENSP00000492190.1:p.Gly613Arg", "hgvsWellDefined": "ENSP00000492190.1:p.Gly613Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS764520" }, { "coordinates": [ { "allele": "A", "end": 2224, "referenceAllele": "G", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "ENST00000639785.2:c.1837G>A" ], "proteinEffect": { "hgvs": "ENSP00000491584.2:p.Gly613Arg", "hgvsWellDefined": "ENSP00000491584.2:p.Gly613Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS765173", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000639785.2:c.1837G>A" }, "RefSeq": { "hgvs": "NM_000388.4:c.1837G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000491584.2:p.Gly613Arg" }, "RefSeq": { "hgvs": "NP_000379.3:p.Gly613Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 2209, "referenceAllele": "G", "start": 2208 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "ENST00000490131.5:c.1837G>A" ], "proteinEffect": { "hgvs": "ENSP00000418685.1:p.Gly613Arg", "hgvsWellDefined": "ENSP00000418685.1:p.Gly613Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS328037" }, { "coordinates": [ { "allele": "A", "end": 2305, "referenceAllele": "G", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "ENST00000498619.2:c.1867G>A" ], "proteinEffect": { "hgvs": "ENSP00000420194.1:p.Gly623Arg", "hgvsWellDefined": "ENSP00000420194.1:p.Gly623Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS334587" }, { "@id": "http://reg.genome.network/allele/PA645471739", "coordinates": [ { "allele": "A", "end": 2209, "referenceAllele": "G", "start": 2208 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "NM_000388.3:c.1837G>A" ], "proteinEffect": { "hgvs": "NP_000379.2:p.Gly613Arg", "hgvsWellDefined": "NP_000379.2:p.Gly613Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006449" }, { "coordinates": [ { "allele": "A", "end": 2305, "referenceAllele": "G", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "NM_001178065.1:c.1867G>A" ], "proteinEffect": { "hgvs": "NP_001171536.1:p.Gly623Arg", "hgvsWellDefined": "NP_001171536.1:p.Gly623Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS015837" }, { "coordinates": [ { "allele": "A", "end": 2443, "referenceAllele": "G", "start": 2442 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_005247836.2:c.1837G>A" ], "proteinEffect": { "hgvs": "XP_005247893.1:p.Gly613Arg", "hgvsWellDefined": "XP_005247893.1:p.Gly613Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS058208" }, { "coordinates": [ { "allele": "A", "end": 1439, "referenceAllele": "G", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_005247837.2:c.1354G>A" ], "proteinEffect": { "hgvs": "XP_005247894.1:p.Gly452Arg", "hgvsWellDefined": "XP_005247894.1:p.Gly452Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS058209" }, { "coordinates": [ { "allele": "A", "end": 2294, "referenceAllele": "G", "start": 2293 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_006713789.2:c.1837G>A" ], "proteinEffect": { "hgvs": "XP_006713852.1:p.Gly613Arg", "hgvsWellDefined": "XP_006713852.1:p.Gly613Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS070360" }, { "coordinates": [ { "allele": "A", "end": 4314, "referenceAllele": "G", "start": 4313 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_011513237.1:c.1837G>A" ], "proteinEffect": { "hgvs": "XP_011511539.1:p.Gly613Arg", "hgvsWellDefined": "XP_011511539.1:p.Gly613Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS080490" }, { "coordinates": [ { "allele": "A", "end": 4245, "referenceAllele": "G", "start": 4244 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_011513238.1:c.1837G>A" ], "proteinEffect": { "hgvs": "XP_011511540.1:p.Gly613Arg", "hgvsWellDefined": "XP_011511540.1:p.Gly613Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS080491" }, { "coordinates": [ { "allele": "A", "end": 1432, "referenceAllele": "G", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_011513239.1:c.1249G>A" ], "proteinEffect": { "hgvs": "XP_011511541.1:p.Gly417Arg", "hgvsWellDefined": "XP_011511541.1:p.Gly417Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS080492" }, { "coordinates": [ { "allele": "A", "end": 2790, "referenceAllele": "G", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_006713789.3:c.1837G>A" ], "proteinEffect": { "hgvs": "XP_006713852.1:p.Gly613Arg", "hgvsWellDefined": "XP_006713852.1:p.Gly613Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS538582" }, { "coordinates": [ { "allele": "A", "end": 4155, "referenceAllele": "G", "start": 4154 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_017007324.1:c.1837G>A" ], "proteinEffect": { "hgvs": "XP_016862813.1:p.Gly613Arg", "hgvsWellDefined": "XP_016862813.1:p.Gly613Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS562107" }, { "coordinates": [ { "allele": "A", "end": 2181, "referenceAllele": "G", "start": 2180 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_017007325.1:c.1837G>A" ], "proteinEffect": { "hgvs": "XP_016862814.1:p.Gly613Arg", "hgvsWellDefined": "XP_016862814.1:p.Gly613Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS562108" }, { "@id": "http://reg.genome.network/allele/PA2825152771", "coordinates": [ { "allele": "A", "end": 2224, "referenceAllele": "G", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "NM_000388.4:c.1837G>A" ], "proteinEffect": { "hgvs": "NP_000379.3:p.Gly613Arg", "hgvsWellDefined": "NP_000379.3:p.Gly613Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS674823", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000639785.2:c.1837G>A" }, "RefSeq": { "hgvs": "NM_000388.4:c.1837G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000491584.2:p.Gly613Arg" }, "RefSeq": { "hgvs": "NP_000379.3:p.Gly613Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA915995148", "coordinates": [ { "allele": "A", "end": 2312, "referenceAllele": "G", "start": 2311 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "NM_001178065.2:c.1867G>A" ], "proteinEffect": { "hgvs": "NP_001171536.2:p.Gly623Arg", "hgvsWellDefined": "NP_001171536.2:p.Gly623Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS678929" } ], "type": "nucleotide" }