{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344032607", "communityStandardTitle": [ "NM_201253.3(CRB1):c.1783G>C (p.Ala595Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1039676[alleleid]", "alleleId": 1039676, "preferredName": "NM_201253.3(CRB1):c.1783G>C (p.Ala595Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1056590", "RCV": [ "RCV001365443" ], "variationId": 1056590 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197390741G>C?assembly=hg19", "id": "chr1:g.197390741G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197421611G>C?assembly=hg38", "id": "chr1:g.197421611G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/752212470", "rs": 752212470 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 197421611, "referenceAllele": "G", "start": 197421610 } ], "hgvs": [ "NC_000001.11:g.197421611G>C", "CM000663.2:g.197421611G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 197390741, "referenceAllele": "G", "start": 197390740 } ], "hgvs": [ "NC_000001.10:g.197390741G>C", "CM000663.1:g.197390741G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 195657364, "referenceAllele": "G", "start": 195657363 } ], "hgvs": [ "NC_000001.9:g.195657364G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "C", "end": 158334, "referenceAllele": "G", "start": 158333 } ], "hgvs": [ "NG_008483.1:g.158334G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001118" }, { "coordinates": [ { "allele": "C", "end": 225150, "referenceAllele": "G", "start": 225149 } ], "hgvs": [ "NG_008483.2:g.225150G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS616106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.8:c.1783G>C" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Ala595Pro", "hgvsWellDefined": "ENSP00000356370.3:p.Ala595Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS750000", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.1783G>C" }, "RefSeq": { "hgvs": "NM_201253.3:c.1783G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Ala595Pro" }, "RefSeq": { "hgvs": "NP_957705.1:p.Ala595Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 1918, "referenceAllele": "G", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000638467.1:c.1783G>C" ], "proteinEffect": { "hgvs": "ENSP00000491102.1:p.Ala595Pro", "hgvsWellDefined": "ENSP00000491102.1:p.Ala595Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS764542" }, { "coordinates": [ { "allele": "C", "end": 764, "referenceAllele": "G", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000681519.1:c.664G>C" ], "proteinEffect": { "hgvs": "ENSP00000505267.1:p.Ala222Pro", "hgvsWellDefined": "ENSP00000505267.1:p.Ala222Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS781125" }, { "coordinates": [ { "allele": "C", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367397.1:c.-75G>C" ], "proteinEffect": { "hgvs": "ENSP00000356367.1:n.-75G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS266364" }, { "coordinates": [ { "allele": "C", "end": 1447, "referenceAllele": "G", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367399.6:c.1447G>C" ], "proteinEffect": { "hgvs": "ENSP00000356369.2:p.Ala483Pro", "hgvsWellDefined": "ENSP00000356369.2:p.Ala483Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS266365" }, { "coordinates": [ { "allele": "C", "end": 1918, "referenceAllele": "G", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.7:c.1783G>C" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Ala595Pro", "hgvsWellDefined": "ENSP00000356370.3:p.Ala595Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS266366" }, { "coordinates": [ { "allele": "C", "end": 1918, "referenceAllele": "G", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000484075.5:c.1783G>C" ], "proteinEffect": { "hgvs": "ENSP00000433932.1:p.Ala595Pro", "hgvsWellDefined": "ENSP00000433932.1:p.Ala595Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS323413" }, { "coordinates": [ { "allele": "C", "end": 1992, "referenceAllele": "G", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000535699.5:c.1576G>C" ], "proteinEffect": { "hgvs": "ENSP00000438786.1:p.Ala526Pro", "hgvsWellDefined": "ENSP00000438786.1:p.Ala526Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS359878" }, { "coordinates": [ { "allele": "C", "end": 1992, "referenceAllele": "G", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000538660.5:c.1783G>C" ], "proteinEffect": { "hgvs": "ENSP00000438091.1:p.Ala595Pro", "hgvsWellDefined": "ENSP00000438091.1:p.Ala595Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS361440" }, { "@id": "http://reg.genome.network/allele/PA2826192032", "coordinates": [ { "allele": "C", "end": 1656, "referenceAllele": "G", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.1:c.1447G>C" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Ala483Pro", "hgvsWellDefined": "NP_001180569.1:p.Ala483Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS016470" }, { "@id": "http://reg.genome.network/allele/PA2826446568", "coordinates": [ { "allele": "C", "end": 1915, "referenceAllele": "G", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.1:c.1576G>C" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Ala526Pro", "hgvsWellDefined": "NP_001244894.1:p.Ala526Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS019649" }, { "@id": "http://reg.genome.network/allele/PA2826447969", "coordinates": [ { "allele": "C", "end": 1992, "referenceAllele": "G", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.1:c.1783G>C" ], "proteinEffect": { "hgvs": "NP_001244895.1:p.Ala595Pro", "hgvsWellDefined": "NP_001244895.1:p.Ala595Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS019650" }, { "@id": "http://reg.genome.network/allele/PA2499304606", "coordinates": [ { "allele": "C", "end": 1992, "referenceAllele": "G", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.2:c.1783G>C" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Ala595Pro", "hgvsWellDefined": "NP_957705.1:p.Ala595Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS044977" }, { "coordinates": [ { "allele": "C", "end": 1922, "endIntronDirection": "+", "endIntronOffset": 70, "referenceAllele": "G", "start": 1922, "startIntronDirection": "+", "startIntronOffset": 69 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.1:n.1922+70G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS052002" }, { "coordinates": [ { "allele": "C", "end": 1992, "referenceAllele": "G", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.1:n.1992G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS052003" }, { "coordinates": [ { "allele": "C", "end": 1917, "referenceAllele": "G", "start": 1916 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.1:c.1783G>C" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Ala595Pro", "hgvsWellDefined": "XP_011507667.1:p.Ala595Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS076633" }, { "coordinates": [ { "allele": "C", "end": 1917, "referenceAllele": "G", "start": 1916 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509366.1:c.1783G>C" ], "proteinEffect": { "hgvs": "XP_011507668.1:p.Ala595Pro", "hgvsWellDefined": "XP_011507668.1:p.Ala595Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS076634" }, { "coordinates": [ { "allele": "C", "end": 1917, "referenceAllele": "G", "start": 1916 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509367.1:c.1783G>C" ], "proteinEffect": { "hgvs": "XP_011507669.1:p.Ala595Pro", "hgvsWellDefined": "XP_011507669.1:p.Ala595Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS076635" }, { "coordinates": [ { "allele": "C", "end": 1366, "referenceAllele": "G", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509368.1:c.1201G>C" ], "proteinEffect": { "hgvs": "XP_011507670.1:p.Ala401Pro", "hgvsWellDefined": "XP_011507670.1:p.Ala401Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS076636" }, { "coordinates": [ { "allele": "C", "end": 899, "referenceAllele": "G", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.1:c.226G>C" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Ala76Pro", "hgvsWellDefined": "XP_011507671.1:p.Ala76Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS076637" }, { "coordinates": [ { "allele": "C", "end": 1917, "referenceAllele": "G", "start": 1916 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.2:c.1783G>C" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Ala595Pro", "hgvsWellDefined": "XP_011507667.1:p.Ala595Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS541251" }, { "coordinates": [ { "allele": "C", "end": 705, "referenceAllele": "G", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.2:c.226G>C" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Ala76Pro", "hgvsWellDefined": "XP_011507671.1:p.Ala76Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS541252" }, { "coordinates": [ { "allele": "C", "end": 1684, "referenceAllele": "G", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000851.1:c.940G>C" ], "proteinEffect": { "hgvs": "XP_016856340.1:p.Ala314Pro", "hgvsWellDefined": "XP_016856340.1:p.Ala314Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS557131" }, { "coordinates": [ { "allele": "C", "end": 1917, "referenceAllele": "G", "start": 1916 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000852.1:c.1783G>C" ], "proteinEffect": { "hgvs": "XP_016856341.1:p.Ala595Pro", "hgvsWellDefined": "XP_016856341.1:p.Ala595Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS557132" }, { "@id": "http://reg.genome.network/allele/PA2499304606", "coordinates": [ { "allele": "C", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.3:c.1783G>C" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Ala595Pro", "hgvsWellDefined": "NP_957705.1:p.Ala595Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS673211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.1783G>C" }, "RefSeq": { "hgvs": "NM_201253.3:c.1783G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Ala595Pro" }, "RefSeq": { "hgvs": "NP_957705.1:p.Ala595Pro" } } } }, { "@id": "http://reg.genome.network/allele/PA2826192032", "coordinates": [ { "allele": "C", "end": 1608, "referenceAllele": "G", "start": 1607 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.2:c.1447G>C" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Ala483Pro", "hgvsWellDefined": "NP_001180569.1:p.Ala483Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS679252" }, { "@id": "http://reg.genome.network/allele/PA2826446568", "coordinates": [ { "allele": "C", "end": 1873, "referenceAllele": "G", "start": 1872 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.2:c.1576G>C" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Ala526Pro", "hgvsWellDefined": "NP_001244894.1:p.Ala526Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS680747" }, { "coordinates": [ { "allele": "C", "end": 1874, "endIntronDirection": "+", "endIntronOffset": 70, "referenceAllele": "G", "start": 1874, "startIntronDirection": "+", "startIntronOffset": 69 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.2:n.1874+70G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS702513" }, { "coordinates": [ { "allele": "C", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.2:n.1944G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS702514" }, { "@id": "http://reg.genome.network/allele/PA2826447969", "coordinates": [ { "allele": "C", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.2:c.1783G>C" ], "proteinEffect": { "hgvs": "NP_001244895.1:p.Ala595Pro", "hgvsWellDefined": "NP_001244895.1:p.Ala595Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS714892" } ], "type": "nucleotide" }