{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3191364046", "communityStandardTitle": [ "NM_014956.5(CEP164):c.1408A= (p.Arg470=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2541525100", "rs": 2541525100 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 117380704, "referenceAllele": "A", "start": 117380703 } ], "hgvs": [ "NC_000011.10:g.117380704A=", "CM000673.2:g.117380704A=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 117251420, "referenceAllele": "A", "start": 117251419 } ], "hgvs": [ "NC_000011.9:g.117251420A=", "CM000673.1:g.117251420A=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 116756630, "referenceAllele": "A", "start": 116756629 } ], "hgvs": [ "NC_000011.8:g.116756630A=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 63927, "referenceAllele": "A", "start": 63926 } ], "hgvs": [ "NG_033032.1:g.63927A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS005366" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1556, "referenceAllele": "A", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000278935.8:c.1408A=" ], "proteinEffect": { "hgvs": "ENSP00000278935.3:p.Arg470=" }, "referenceSequence": "http://reg.genome.network/refseq/RS743512", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000278935.8:c.1408A=" }, "RefSeq": { "hgvs": "NM_014956.5:c.1408A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000278935.3:p.Arg470=" }, "RefSeq": { "hgvs": "NP_055771.4:p.Arg470=" } } } }, { "coordinates": [ { "allele": "A", "end": 1555, "referenceAllele": "A", "start": 1554 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000278935.7:c.1408A=" ], "proteinEffect": { "hgvs": "ENSP00000278935.3:p.Arg470=" }, "referenceSequence": "http://reg.genome.network/refseq/RS252846" }, { "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "A", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000533675.5:n.1654A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS358408" }, { "coordinates": [ { "allele": "A", "end": 732, "referenceAllele": "A", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "ENST00000533706.5:n.732A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS358435" }, { "coordinates": [ { "allele": "A", "end": 1489, "referenceAllele": "A", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_001271933.1:c.1408A=" ], "proteinEffect": { "hgvs": "NP_001258862.1:p.Arg470=" }, "referenceSequence": "http://reg.genome.network/refseq/RS020729" }, { "@id": "http://reg.genome.network/allele/PA2829789723", "coordinates": [ { "allele": "A", "end": 1555, "referenceAllele": "A", "start": 1554 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_014956.4:c.1408A=" ], "proteinEffect": { "hgvs": "NP_055771.4:p.Arg470=" }, "referenceSequence": "http://reg.genome.network/refseq/RS033623" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_005271453.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_005271510.1:p.Arg1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066883" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "A", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_005271456.1:c.1408A=" ], "proteinEffect": { "hgvs": "XP_005271513.1:p.Arg470=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066884" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "A", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_005271457.1:c.1408A=" ], "proteinEffect": { "hgvs": "XP_005271514.1:p.Arg470=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066885" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_006718788.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_006718851.1:p.Arg1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072791" }, { "coordinates": [ { "allele": "A", "end": 1748, "referenceAllele": "A", "start": 1747 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_006718794.1:c.1330A=" ], "proteinEffect": { "hgvs": "XP_006718857.1:p.Arg444=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072792" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542670.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_011540972.1:p.Arg1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109601" }, { "coordinates": [ { "allele": "A", "end": 3263, "referenceAllele": "A", "start": 3262 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542671.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_011540973.1:p.Arg1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109602" }, { "coordinates": [ { "allele": "A", "end": 3440, "referenceAllele": "A", "start": 3439 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542672.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_011540974.1:p.Arg1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109603" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542673.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_011540975.1:p.Arg1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109604" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542674.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_011540976.1:p.Ser1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109605" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542675.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_011540977.1:p.Arg1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109606" }, { "coordinates": [ { "allele": "A", "end": 3434, "referenceAllele": "A", "start": 3433 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542676.1:c.3016A=" ], "proteinEffect": { "hgvs": "XP_011540978.1:p.Arg1006=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109607" }, { "coordinates": [ { "allele": "A", "end": 3296, "referenceAllele": "A", "start": 3295 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542677.1:c.2956A=" ], "proteinEffect": { "hgvs": "XP_011540979.1:p.Arg986=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109608" }, { "coordinates": [ { "allele": "A", "end": 3161, "referenceAllele": "A", "start": 3160 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542678.1:c.2956A=" ], "proteinEffect": { "hgvs": "XP_011540980.1:p.Arg986=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109609" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542679.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_011540981.1:p.Arg1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109610" }, { "coordinates": [ { "allele": "A", "end": 3454, "referenceAllele": "A", "start": 3453 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542680.1:c.2848A=" ], "proteinEffect": { "hgvs": "XP_011540982.1:p.Arg950=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109611" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542681.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_011540983.1:p.Arg1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109612" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "A", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542682.1:c.1408A=" ], "proteinEffect": { "hgvs": "XP_011540984.1:p.Arg470=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109613" }, { "coordinates": [ { "allele": "A", "end": 1488, "referenceAllele": "A", "start": 1487 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542683.1:c.1408A=" ], "proteinEffect": { "hgvs": "XP_011540985.1:p.Arg470=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109614" }, { "coordinates": [ { "allele": "A", "end": 1748, "referenceAllele": "A", "start": 1747 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542685.1:c.1330A=" ], "proteinEffect": { "hgvs": "XP_011540987.1:p.Arg444=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109615" }, { "coordinates": [ { "allele": "A", "end": 1410, "referenceAllele": "A", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542686.1:c.1330A=" ], "proteinEffect": { "hgvs": "XP_011540988.1:p.Arg444=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109616" }, { "coordinates": [ { "allele": "A", "end": 1677, "referenceAllele": "A", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542687.1:c.1270A=" ], "proteinEffect": { "hgvs": "XP_011540989.1:p.Arg424=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109617" }, { "coordinates": [ { "allele": "A", "end": 1231, "referenceAllele": "A", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_011542688.1:c.1069A=" ], "proteinEffect": { "hgvs": "XP_011540990.1:p.Arg357=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109618" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_428971.2:n.3512A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS118219" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947808.1:n.3512A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS141388" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947809.1:n.3512A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS141389" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947810.1:n.3512A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS141390" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_947811.1:n.3512A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS141391" }, { "coordinates": [ { "allele": "A", "end": 3379, "referenceAllele": "A", "start": 3378 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017364.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_016872853.1:p.Ser1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569583" }, { "coordinates": [ { "allele": "A", "end": 3531, "referenceAllele": "A", "start": 3530 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017365.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_016872854.1:p.Ser1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569584" }, { "coordinates": [ { "allele": "A", "end": 3314, "referenceAllele": "A", "start": 3313 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017366.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_016872855.1:p.Ser1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569585" }, { "coordinates": [ { "allele": "A", "end": 3440, "referenceAllele": "A", "start": 3439 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017367.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_016872856.1:p.Ser1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569586" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017368.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_016872857.1:p.Ser1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569587" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017369.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_016872858.1:p.Ser1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569588" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017370.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_016872859.1:p.Ser1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569589" }, { "coordinates": [ { "allele": "A", "end": 3434, "referenceAllele": "A", "start": 3433 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017371.1:c.3016A=" ], "proteinEffect": { "hgvs": "XP_016872860.1:p.Ser1006=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569590" }, { "coordinates": [ { "allele": "A", "end": 3434, "referenceAllele": "A", "start": 3433 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017372.1:c.3016A=" ], "proteinEffect": { "hgvs": "XP_016872861.1:p.Arg1006=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569591" }, { "coordinates": [ { "allele": "A", "end": 3310, "referenceAllele": "A", "start": 3309 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017373.2:c.2956A=" ], "proteinEffect": { "hgvs": "XP_016872862.1:p.Ser986=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569592" }, { "coordinates": [ { "allele": "A", "end": 3107, "referenceAllele": "A", "start": 3106 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017374.1:c.2956A=" ], "proteinEffect": { "hgvs": "XP_016872863.1:p.Ser986=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569593" }, { "coordinates": [ { "allele": "A", "end": 3234, "referenceAllele": "A", "start": 3233 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017375.2:c.2956A=" ], "proteinEffect": { "hgvs": "XP_016872864.1:p.Ser986=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569594" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017376.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_016872865.1:p.Ser1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569595" }, { "coordinates": [ { "allele": "A", "end": 3469, "referenceAllele": "A", "start": 3468 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017377.2:c.2848A=" ], "proteinEffect": { "hgvs": "XP_016872866.1:p.Ser950=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569596" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017378.1:c.3094A=" ], "proteinEffect": { "hgvs": "XP_016872867.1:p.Ser1032=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569597" }, { "coordinates": [ { "allele": "A", "end": 1826, "referenceAllele": "A", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017379.1:c.1408A=" ], "proteinEffect": { "hgvs": "XP_016872868.1:p.Ser470=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569598" }, { "coordinates": [ { "allele": "A", "end": 1488, "referenceAllele": "A", "start": 1487 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017380.1:c.1408A=" ], "proteinEffect": { "hgvs": "XP_016872869.1:p.Ser470=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569599" }, { "coordinates": [ { "allele": "A", "end": 1748, "referenceAllele": "A", "start": 1747 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017381.1:c.1330A=" ], "proteinEffect": { "hgvs": "XP_016872870.1:p.Ser444=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569600" }, { "coordinates": [ { "allele": "A", "end": 1410, "referenceAllele": "A", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017382.1:c.1330A=" ], "proteinEffect": { "hgvs": "XP_016872871.1:p.Ser444=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569601" }, { "coordinates": [ { "allele": "A", "end": 1677, "referenceAllele": "A", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017383.1:c.1270A=" ], "proteinEffect": { "hgvs": "XP_016872872.1:p.Ser424=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569602" }, { "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "A", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017384.1:c.1270A=" ], "proteinEffect": { "hgvs": "XP_016872873.1:p.Ser424=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569603" }, { "coordinates": [ { "allele": "A", "end": 1232, "referenceAllele": "A", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017385.1:c.1069A=" ], "proteinEffect": { "hgvs": "XP_016872874.1:p.Ser357=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569604" }, { "coordinates": [ { "allele": "A", "end": 1599, "referenceAllele": "A", "start": 1598 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XM_017017386.1:c.1192A=" ], "proteinEffect": { "hgvs": "XP_016872875.1:p.Arg398=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569605" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_001747793.1:n.3512A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS595910" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_001747794.1:n.3512A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS595911" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_002957132.1:n.3512A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS603268" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_002957133.1:n.3512A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS603269" }, { "coordinates": [ { "allele": "A", "end": 3512, "referenceAllele": "A", "start": 3511 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "XR_428971.3:n.3512A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS606619" }, { "@id": "http://reg.genome.network/allele/PA2829789723", "coordinates": [ { "allele": "A", "end": 1556, "referenceAllele": "A", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_014956.5:c.1408A=" ], "proteinEffect": { "hgvs": "NP_055771.4:p.Arg470=" }, "referenceSequence": "http://reg.genome.network/refseq/RS668576", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000278935.8:c.1408A=" }, "RefSeq": { "hgvs": "NM_014956.5:c.1408A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000278935.3:p.Arg470=" }, "RefSeq": { "hgvs": "NP_055771.4:p.Arg470=" } } } }, { "coordinates": [ { "allele": "A", "end": 1489, "referenceAllele": "A", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN029182", "geneNCBI_id": 22897, "geneSymbol": "CEP164", "hgvs": [ "NM_001271933.2:c.1408A=" ], "proteinEffect": { "hgvs": "NP_001258862.1:p.Arg470=" }, "referenceSequence": "http://reg.genome.network/refseq/RS715320" } ], "type": "nucleotide" }