{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA206075", "communityStandardTitle": [ "NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207264[alleleid]", "alleleId": 207264, "preferredName": "NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210553", "RCV": [ "RCV000192922", "RCV000625259", "RCV000726605" ], "variationId": 210553 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-37183766-T-C", "id": "5-37183766-T-C", "variant": "5:37183766 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37183766T>C?assembly=hg19", "id": "chr5:g.37183766T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37183664T>C?assembly=hg38", "id": "chr5:g.37183664T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/141911199", "rs": 141911199 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37183766-T-C?dataset=gnomad_r2_1", "id": "5-37183766-T-C", "variant": "5:37183766 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37183664-T-C?dataset=gnomad_r3", "id": "5-37183664-T-C", "variant": "5:37183664 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37183664-T-C?dataset=gnomad_r4", "id": "5-37183664-T-C", "variant": "5:37183664 T / C" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 37183664, "referenceAllele": "T", "start": 37183663 } ], "hgvs": [ "NC_000005.10:g.37183664T>C", "CM000667.2:g.37183664T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 37183766, "referenceAllele": "T", "start": 37183765 } ], "hgvs": [ "NC_000005.9:g.37183766T>C", "CM000667.1:g.37183766T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 37219523, "referenceAllele": "T", "start": 37219522 } ], "hgvs": [ "NC_000005.8:g.37219523T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "G", "end": 70765, "referenceAllele": "A", "start": 70764 } ], "hgvs": [ "NG_032772.1:g.70765A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS005212" }, { "coordinates": [ { "allele": "G", "end": 70765, "referenceAllele": "A", "start": 70764 } ], "hgvs": [ "NG_032772.2:g.70765A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS673869" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 4021, "referenceAllele": "A", "start": 4020 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000425232.7:c.4021A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS755064" }, { "coordinates": [ { "allele": "G", "end": 4696, "referenceAllele": "A", "start": 4695 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000651892.2:c.4517A>G" ], "proteinEffect": { "hgvs": "ENSP00000498265.2:p.His1506Arg", "hgvsWellDefined": "ENSP00000498265.2:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS771916", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651892.2:c.4517A>G" }, "RefSeq": { "hgvs": "NM_001384732.1:c.4517A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498265.2:p.His1506Arg" }, "RefSeq": { "hgvs": "NP_001371661.1:p.His1506Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 4748, "referenceAllele": "A", "start": 4747 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000425232.6:c.4517A>G" ], "proteinEffect": { "hgvs": "ENSP00000389014.2:p.His1506Arg", "hgvsWellDefined": "ENSP00000389014.2:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS288661" }, { "coordinates": [ { "allele": "G", "end": 4611, "referenceAllele": "A", "start": 4610 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000508244.5:c.4517A>G" ], "proteinEffect": { "hgvs": "ENSP00000421690.1:p.His1506Arg", "hgvsWellDefined": "ENSP00000421690.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS339313" }, { "coordinates": [ { "allele": "G", "end": 1532, "referenceAllele": "A", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000509849.5:c.1532A>G" ], "proteinEffect": { "hgvs": "ENSP00000426337.1:p.His511Arg", "hgvsWellDefined": "ENSP00000426337.1:p.His511Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS340519" }, { "coordinates": [ { "allele": "G", "end": 1661, "referenceAllele": "A", "start": 1660 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000514429.5:c.1661A>G" ], "proteinEffect": { "hgvs": "ENSP00000424223.1:p.His554Arg", "hgvsWellDefined": "ENSP00000424223.1:p.His554Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS343913" }, { "@id": "http://reg.genome.network/allele/PA206076", "coordinates": [ { "allele": "G", "end": 4748, "referenceAllele": "A", "start": 4747 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_023073.3:c.4517A>G" ], "proteinEffect": { "hgvs": "NP_075561.3:p.His1506Arg", "hgvsWellDefined": "NP_075561.3:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS037556" }, { "coordinates": [ { "allele": "G", "end": 4692, "referenceAllele": "A", "start": 4691 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248345.2:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_005248402.1:p.His1506Arg", "hgvsWellDefined": "XP_005248402.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS058407" }, { "coordinates": [ { "allele": "G", "end": 4692, "referenceAllele": "A", "start": 4691 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248346.2:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_005248403.1:p.His1506Arg", "hgvsWellDefined": "XP_005248403.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS058408" }, { "coordinates": [ { "allele": "G", "end": 4692, "referenceAllele": "A", "start": 4691 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248347.2:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_005248404.1:p.His1506Arg", "hgvsWellDefined": "XP_005248404.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS058409" }, { "coordinates": [ { "allele": "G", "end": 4692, "referenceAllele": "A", "start": 4691 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248349.2:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_005248406.1:p.His1506Arg", "hgvsWellDefined": "XP_005248406.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS058410" }, { "coordinates": [ { "allele": "G", "end": 4563, "referenceAllele": "A", "start": 4562 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248350.2:c.4388A>G" ], "proteinEffect": { "hgvs": "XP_005248407.1:p.His1463Arg", "hgvsWellDefined": "XP_005248407.1:p.His1463Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS058411" }, { "coordinates": [ { "allele": "G", "end": 1353, "referenceAllele": "A", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248353.3:c.1160A>G" ], "proteinEffect": { "hgvs": "XP_005248410.1:p.His387Arg", "hgvsWellDefined": "XP_005248410.1:p.His387Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS058412" }, { "coordinates": [ { "allele": "G", "end": 4692, "referenceAllele": "A", "start": 4691 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_006714489.2:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_006714552.1:p.His1506Arg", "hgvsWellDefined": "XP_006714552.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS070685" }, { "coordinates": [ { "allele": "G", "end": 4645, "referenceAllele": "A", "start": 4644 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514085.1:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_011512387.1:p.His1506Arg", "hgvsWellDefined": "XP_011512387.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS081310" }, { "coordinates": [ { "allele": "G", "end": 4735, "referenceAllele": "A", "start": 4734 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514086.1:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_011512388.1:p.His1506Arg", "hgvsWellDefined": "XP_011512388.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS081311" }, { "coordinates": [ { "allele": "G", "end": 4692, "referenceAllele": "A", "start": 4691 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514087.1:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_011512389.1:p.His1506Arg", "hgvsWellDefined": "XP_011512389.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS081312" }, { "coordinates": [ { "allele": "G", "end": 4692, "referenceAllele": "A", "start": 4691 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514088.1:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_011512390.1:p.His1506Arg", "hgvsWellDefined": "XP_011512390.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS081313" }, { "coordinates": [ { "allele": "G", "end": 4692, "referenceAllele": "A", "start": 4691 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514089.1:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_011512391.1:p.His1506Arg", "hgvsWellDefined": "XP_011512391.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS081314" }, { "coordinates": [ { "allele": "G", "end": 4611, "referenceAllele": "A", "start": 4610 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514090.1:c.4199A>G" ], "proteinEffect": { "hgvs": "XP_011512392.1:p.His1400Arg", "hgvsWellDefined": "XP_011512392.1:p.His1400Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS081315" }, { "coordinates": [ { "allele": "G", "end": 3926, "referenceAllele": "A", "start": 3925 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514091.1:c.3845A>G" ], "proteinEffect": { "hgvs": "XP_011512393.1:p.His1282Arg", "hgvsWellDefined": "XP_011512393.1:p.His1282Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS081316" }, { "coordinates": [ { "allele": "G", "end": 4693, "referenceAllele": "A", "start": 4692 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514092.1:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_011512394.1:p.His1506Arg", "hgvsWellDefined": "XP_011512394.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS081317" }, { "coordinates": [ { "allele": "G", "end": 4698, "referenceAllele": "A", "start": 4697 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514093.1:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_011512395.1:p.His1506Arg", "hgvsWellDefined": "XP_011512395.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS081318" }, { "coordinates": [ { "allele": "G", "end": 1785, "referenceAllele": "A", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514094.1:c.1742A>G" ], "proteinEffect": { "hgvs": "XP_011512396.1:p.His581Arg", "hgvsWellDefined": "XP_011512396.1:p.His581Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS081319" }, { "coordinates": [ { "allele": "G", "end": 4692, "referenceAllele": "A", "start": 4691 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_427661.2:n.4692A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS117820" }, { "coordinates": [ { "allele": "G", "end": 4692, "referenceAllele": "A", "start": 4691 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_925644.1:n.4692A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS122438" }, { "coordinates": [ { "allele": "G", "end": 4819, "referenceAllele": "A", "start": 4818 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248345.4:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_005248402.1:p.His1506Arg", "hgvsWellDefined": "XP_005248402.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS533054" }, { "coordinates": [ { "allele": "G", "end": 4819, "referenceAllele": "A", "start": 4818 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248346.4:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_005248403.1:p.His1506Arg", "hgvsWellDefined": "XP_005248403.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS533055" }, { "coordinates": [ { "allele": "G", "end": 4819, "referenceAllele": "A", "start": 4818 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248347.4:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_005248404.1:p.His1506Arg", "hgvsWellDefined": "XP_005248404.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS533056" }, { "coordinates": [ { "allele": "G", "end": 4819, "referenceAllele": "A", "start": 4818 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248349.4:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_005248406.1:p.His1506Arg", "hgvsWellDefined": "XP_005248406.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS533057" }, { "coordinates": [ { "allele": "G", "end": 4690, "referenceAllele": "A", "start": 4689 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248350.4:c.4388A>G" ], "proteinEffect": { "hgvs": "XP_005248407.1:p.His1463Arg", "hgvsWellDefined": "XP_005248407.1:p.His1463Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS533058" }, { "coordinates": [ { "allele": "G", "end": 4868, "referenceAllele": "A", "start": 4867 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514085.3:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_011512387.1:p.His1506Arg", "hgvsWellDefined": "XP_011512387.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS543177" }, { "coordinates": [ { "allele": "G", "end": 4754, "referenceAllele": "A", "start": 4753 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514086.3:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_011512388.1:p.His1506Arg", "hgvsWellDefined": "XP_011512388.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS543178" }, { "coordinates": [ { "allele": "G", "end": 4741, "referenceAllele": "A", "start": 4740 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514087.2:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_011512389.1:p.His1506Arg", "hgvsWellDefined": "XP_011512389.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS543179" }, { "coordinates": [ { "allele": "G", "end": 4741, "referenceAllele": "A", "start": 4740 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514088.2:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_011512390.1:p.His1506Arg", "hgvsWellDefined": "XP_011512390.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS543180" }, { "coordinates": [ { "allele": "G", "end": 4741, "referenceAllele": "A", "start": 4740 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514089.2:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_011512391.1:p.His1506Arg", "hgvsWellDefined": "XP_011512391.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS543181" }, { "coordinates": [ { "allele": "G", "end": 4629, "referenceAllele": "A", "start": 4628 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514090.3:c.4199A>G" ], "proteinEffect": { "hgvs": "XP_011512392.1:p.His1400Arg", "hgvsWellDefined": "XP_011512392.1:p.His1400Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS543182" }, { "coordinates": [ { "allele": "G", "end": 4741, "referenceAllele": "A", "start": 4740 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514092.2:c.4517A>G" ], "proteinEffect": { "hgvs": "XP_011512394.1:p.His1506Arg", "hgvsWellDefined": "XP_011512394.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS543183" }, { "coordinates": [ { "allele": "G", "end": 1790, "referenceAllele": "A", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514094.2:c.1742A>G" ], "proteinEffect": { "hgvs": "XP_011512396.1:p.His581Arg", "hgvsWellDefined": "XP_011512396.1:p.His581Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS543184" }, { "coordinates": [ { "allele": "G", "end": 4467, "referenceAllele": "A", "start": 4466 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009760.1:c.4328A>G" ], "proteinEffect": { "hgvs": "XP_016865249.1:p.His1443Arg", "hgvsWellDefined": "XP_016865249.1:p.His1443Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS563982" }, { "coordinates": [ { "allele": "G", "end": 4494, "referenceAllele": "A", "start": 4493 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009761.2:c.4328A>G" ], "proteinEffect": { "hgvs": "XP_016865250.1:p.His1443Arg", "hgvsWellDefined": "XP_016865250.1:p.His1443Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS563983" }, { "coordinates": [ { "allele": "G", "end": 4067, "referenceAllele": "A", "start": 4066 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009763.1:c.3524A>G" ], "proteinEffect": { "hgvs": "XP_016865252.1:p.His1175Arg", "hgvsWellDefined": "XP_016865252.1:p.His1175Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS563984" }, { "coordinates": [ { "allele": "G", "end": 4436, "referenceAllele": "A", "start": 4435 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009765.1:c.3329A>G" ], "proteinEffect": { "hgvs": "XP_016865254.1:p.His1110Arg", "hgvsWellDefined": "XP_016865254.1:p.His1110Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS563985" }, { "coordinates": [ { "allele": "G", "end": 1918, "referenceAllele": "A", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009766.1:c.1160A>G" ], "proteinEffect": { "hgvs": "XP_016865255.1:p.His387Arg", "hgvsWellDefined": "XP_016865255.1:p.His387Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS563986" }, { "coordinates": [ { "allele": "G", "end": 4732, "referenceAllele": "A", "start": 4731 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446183.1:c.4328A>G" ], "proteinEffect": { "hgvs": "XP_024301951.1:p.His1443Arg", "hgvsWellDefined": "XP_024301951.1:p.His1443Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS579857" }, { "coordinates": [ { "allele": "G", "end": 4672, "referenceAllele": "A", "start": 4671 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446184.1:c.4199A>G" ], "proteinEffect": { "hgvs": "XP_024301952.1:p.His1400Arg", "hgvsWellDefined": "XP_024301952.1:p.His1400Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS579858" }, { "coordinates": [ { "allele": "G", "end": 4565, "referenceAllele": "A", "start": 4564 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446185.1:c.3845A>G" ], "proteinEffect": { "hgvs": "XP_024301953.1:p.His1282Arg", "hgvsWellDefined": "XP_024301953.1:p.His1282Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS579859" }, { "coordinates": [ { "allele": "G", "end": 4715, "referenceAllele": "A", "start": 4714 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446186.1:c.3524A>G" ], "proteinEffect": { "hgvs": "XP_024301954.1:p.His1175Arg", "hgvsWellDefined": "XP_024301954.1:p.His1175Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS579860" }, { "coordinates": [ { "allele": "G", "end": 4741, "referenceAllele": "A", "start": 4740 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_001742208.1:n.4741A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591983" }, { "coordinates": [ { "allele": "G", "end": 4741, "referenceAllele": "A", "start": 4740 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_002956171.1:n.4741A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS602333" }, { "coordinates": [ { "allele": "G", "end": 4741, "referenceAllele": "A", "start": 4740 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_925644.2:n.4741A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS608055" }, { "@id": "http://reg.genome.network/allele/PA2828981665", "coordinates": [ { "allele": "G", "end": 4696, "referenceAllele": "A", "start": 4695 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_001384732.1:c.4517A>G" ], "proteinEffect": { "hgvs": "NP_001371661.1:p.His1506Arg", "hgvsWellDefined": "NP_001371661.1:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS723125", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651892.2:c.4517A>G" }, "RefSeq": { "hgvs": "NM_001384732.1:c.4517A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498265.2:p.His1506Arg" }, "RefSeq": { "hgvs": "NP_001371661.1:p.His1506Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA206076", "coordinates": [ { "allele": "G", "end": 4696, "referenceAllele": "A", "start": 4695 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_023073.4:c.4517A>G" ], "proteinEffect": { "hgvs": "NP_075561.3:p.His1506Arg", "hgvsWellDefined": "NP_075561.3:p.His1506Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS728617" } ], "type": "nucleotide" }