{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA277732", "communityStandardTitle": [ "NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214213[alleleid]", "alleleId": 214213, "preferredName": "NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217591", "RCV": [ "RCV000255261", "RCV000201619", "RCV000677320" ], "variationId": 217591 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-37198877-G-A", "id": "5-37198877-G-A", "variant": "5:37198877 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37198877G>A?assembly=hg19", "id": "chr5:g.37198877G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.37198775G>A?assembly=hg38", "id": "chr5:g.37198775G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/141153181", "rs": 141153181 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37198877-G-A?dataset=gnomad_r2_1", "id": "5-37198877-G-A", "variant": "5:37198877 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37198775-G-A?dataset=gnomad_r3", "id": "5-37198775-G-A", "variant": "5:37198775 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-37198775-G-A?dataset=gnomad_r4", "id": "5-37198775-G-A", "variant": "5:37198775 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37198775, "referenceAllele": "G", "start": 37198774 } ], "hgvs": [ "NC_000005.10:g.37198775G>A", "CM000667.2:g.37198775G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37198877, "referenceAllele": "G", "start": 37198876 } ], "hgvs": [ "NC_000005.9:g.37198877G>A", "CM000667.1:g.37198877G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 37234634, "referenceAllele": "G", "start": 37234633 } ], "hgvs": [ "NC_000005.8:g.37234634G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 55654, "referenceAllele": "C", "start": 55653 } ], "hgvs": [ "NG_032772.1:g.55654C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005212" }, { "coordinates": [ { "allele": "T", "end": 55654, "referenceAllele": "C", "start": 55653 } ], "hgvs": [ "NG_032772.2:g.55654C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673869" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000425232.7:c.3103C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS755064" }, { "coordinates": [ { "allele": "T", "end": 3778, "referenceAllele": "C", "start": 3777 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000651892.2:c.3599C>T" ], "proteinEffect": { "hgvs": "ENSP00000498265.2:p.Ala1200Val", "hgvsWellDefined": "ENSP00000498265.2:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS771916", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651892.2:c.3599C>T" }, "RefSeq": { "hgvs": "NM_001384732.1:c.3599C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498265.2:p.Ala1200Val" }, "RefSeq": { "hgvs": "NP_001371661.1:p.Ala1200Val" } } } }, { "coordinates": [ { "allele": "T", "end": 3674, "referenceAllele": "C", "start": 3673 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000676290.1:n.3674C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775992" }, { "coordinates": [ { "allele": "T", "end": 3830, "referenceAllele": "C", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000425232.6:c.3599C>T" ], "proteinEffect": { "hgvs": "ENSP00000389014.2:p.Ala1200Val", "hgvsWellDefined": "ENSP00000389014.2:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS288661" }, { "coordinates": [ { "allele": "T", "end": 3693, "referenceAllele": "C", "start": 3692 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000508244.5:c.3599C>T" ], "proteinEffect": { "hgvs": "ENSP00000421690.1:p.Ala1200Val", "hgvsWellDefined": "ENSP00000421690.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS339313" }, { "coordinates": [ { "allele": "T", "end": 614, "referenceAllele": "C", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000509849.5:c.614C>T" ], "proteinEffect": { "hgvs": "ENSP00000426337.1:p.Ala205Val", "hgvsWellDefined": "ENSP00000426337.1:p.Ala205Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS340519" }, { "coordinates": [ { "allele": "T", "end": 743, "referenceAllele": "C", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "ENST00000514429.5:c.743C>T" ], "proteinEffect": { "hgvs": "ENSP00000424223.1:p.Ala248Val", "hgvsWellDefined": "ENSP00000424223.1:p.Ala248Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS343913" }, { "@id": "http://reg.genome.network/allele/PA277733", "coordinates": [ { "allele": "T", "end": 3830, "referenceAllele": "C", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_023073.3:c.3599C>T" ], "proteinEffect": { "hgvs": "NP_075561.3:p.Ala1200Val", "hgvsWellDefined": "NP_075561.3:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS037556" }, { "coordinates": [ { "allele": "T", "end": 3774, "referenceAllele": "C", "start": 3773 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248345.2:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_005248402.1:p.Ala1200Val", "hgvsWellDefined": "XP_005248402.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS058407" }, { "coordinates": [ { "allele": "T", "end": 3774, "referenceAllele": "C", "start": 3773 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248346.2:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_005248403.1:p.Ala1200Val", "hgvsWellDefined": "XP_005248403.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS058408" }, { "coordinates": [ { "allele": "T", "end": 3774, "referenceAllele": "C", "start": 3773 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248347.2:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_005248404.1:p.Ala1200Val", "hgvsWellDefined": "XP_005248404.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS058409" }, { "coordinates": [ { "allele": "T", "end": 3774, "referenceAllele": "C", "start": 3773 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248349.2:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_005248406.1:p.Ala1200Val", "hgvsWellDefined": "XP_005248406.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS058410" }, { "coordinates": [ { "allele": "T", "end": 3645, "referenceAllele": "C", "start": 3644 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248350.2:c.3470C>T" ], "proteinEffect": { "hgvs": "XP_005248407.1:p.Ala1157Val", "hgvsWellDefined": "XP_005248407.1:p.Ala1157Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS058411" }, { "coordinates": [ { "allele": "T", "end": 435, "referenceAllele": "C", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248353.3:c.242C>T" ], "proteinEffect": { "hgvs": "XP_005248410.1:p.Ala81Val", "hgvsWellDefined": "XP_005248410.1:p.Ala81Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS058412" }, { "coordinates": [ { "allele": "T", "end": 3774, "referenceAllele": "C", "start": 3773 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_006714489.2:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_006714552.1:p.Ala1200Val", "hgvsWellDefined": "XP_006714552.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS070685" }, { "coordinates": [ { "allele": "T", "end": 3727, "referenceAllele": "C", "start": 3726 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514085.1:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_011512387.1:p.Ala1200Val", "hgvsWellDefined": "XP_011512387.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081310" }, { "coordinates": [ { "allele": "T", "end": 3817, "referenceAllele": "C", "start": 3816 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514086.1:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_011512388.1:p.Ala1200Val", "hgvsWellDefined": "XP_011512388.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081311" }, { "coordinates": [ { "allele": "T", "end": 3774, "referenceAllele": "C", "start": 3773 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514087.1:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_011512389.1:p.Ala1200Val", "hgvsWellDefined": "XP_011512389.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081312" }, { "coordinates": [ { "allele": "T", "end": 3774, "referenceAllele": "C", "start": 3773 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514088.1:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_011512390.1:p.Ala1200Val", "hgvsWellDefined": "XP_011512390.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081313" }, { "coordinates": [ { "allele": "T", "end": 3774, "referenceAllele": "C", "start": 3773 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514089.1:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_011512391.1:p.Ala1200Val", "hgvsWellDefined": "XP_011512391.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081314" }, { "coordinates": [ { "allele": "T", "end": 3693, "referenceAllele": "C", "start": 3692 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514090.1:c.3281C>T" ], "proteinEffect": { "hgvs": "XP_011512392.1:p.Ala1094Val", "hgvsWellDefined": "XP_011512392.1:p.Ala1094Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081315" }, { "coordinates": [ { "allele": "T", "end": 3008, "referenceAllele": "C", "start": 3007 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514091.1:c.2927C>T" ], "proteinEffect": { "hgvs": "XP_011512393.1:p.Ala976Val", "hgvsWellDefined": "XP_011512393.1:p.Ala976Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081316" }, { "coordinates": [ { "allele": "T", "end": 3775, "referenceAllele": "C", "start": 3774 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514092.1:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_011512394.1:p.Ala1200Val", "hgvsWellDefined": "XP_011512394.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081317" }, { "coordinates": [ { "allele": "T", "end": 3780, "referenceAllele": "C", "start": 3779 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514093.1:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_011512395.1:p.Ala1200Val", "hgvsWellDefined": "XP_011512395.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081318" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514094.1:c.824C>T" ], "proteinEffect": { "hgvs": "XP_011512396.1:p.Ala275Val", "hgvsWellDefined": "XP_011512396.1:p.Ala275Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081319" }, { "coordinates": [ { "allele": "T", "end": 3774, "referenceAllele": "C", "start": 3773 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_427661.2:n.3774C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117820" }, { "coordinates": [ { "allele": "T", "end": 3774, "referenceAllele": "C", "start": 3773 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_925644.1:n.3774C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS122438" }, { "coordinates": [ { "allele": "T", "end": 3901, "referenceAllele": "C", "start": 3900 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248345.4:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_005248402.1:p.Ala1200Val", "hgvsWellDefined": "XP_005248402.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS533054" }, { "coordinates": [ { "allele": "T", "end": 3901, "referenceAllele": "C", "start": 3900 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248346.4:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_005248403.1:p.Ala1200Val", "hgvsWellDefined": "XP_005248403.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS533055" }, { "coordinates": [ { "allele": "T", "end": 3901, "referenceAllele": "C", "start": 3900 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248347.4:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_005248404.1:p.Ala1200Val", "hgvsWellDefined": "XP_005248404.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS533056" }, { "coordinates": [ { "allele": "T", "end": 3901, "referenceAllele": "C", "start": 3900 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248349.4:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_005248406.1:p.Ala1200Val", "hgvsWellDefined": "XP_005248406.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS533057" }, { "coordinates": [ { "allele": "T", "end": 3772, "referenceAllele": "C", "start": 3771 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_005248350.4:c.3470C>T" ], "proteinEffect": { "hgvs": "XP_005248407.1:p.Ala1157Val", "hgvsWellDefined": "XP_005248407.1:p.Ala1157Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS533058" }, { "coordinates": [ { "allele": "T", "end": 3950, "referenceAllele": "C", "start": 3949 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514085.3:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_011512387.1:p.Ala1200Val", "hgvsWellDefined": "XP_011512387.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS543177" }, { "coordinates": [ { "allele": "T", "end": 3836, "referenceAllele": "C", "start": 3835 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514086.3:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_011512388.1:p.Ala1200Val", "hgvsWellDefined": "XP_011512388.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS543178" }, { "coordinates": [ { "allele": "T", "end": 3823, "referenceAllele": "C", "start": 3822 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514087.2:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_011512389.1:p.Ala1200Val", "hgvsWellDefined": "XP_011512389.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS543179" }, { "coordinates": [ { "allele": "T", "end": 3823, "referenceAllele": "C", "start": 3822 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514088.2:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_011512390.1:p.Ala1200Val", "hgvsWellDefined": "XP_011512390.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS543180" }, { "coordinates": [ { "allele": "T", "end": 3823, "referenceAllele": "C", "start": 3822 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514089.2:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_011512391.1:p.Ala1200Val", "hgvsWellDefined": "XP_011512391.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS543181" }, { "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514090.3:c.3281C>T" ], "proteinEffect": { "hgvs": "XP_011512392.1:p.Ala1094Val", "hgvsWellDefined": "XP_011512392.1:p.Ala1094Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS543182" }, { "coordinates": [ { "allele": "T", "end": 3823, "referenceAllele": "C", "start": 3822 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514092.2:c.3599C>T" ], "proteinEffect": { "hgvs": "XP_011512394.1:p.Ala1200Val", "hgvsWellDefined": "XP_011512394.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS543183" }, { "coordinates": [ { "allele": "T", "end": 872, "referenceAllele": "C", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_011514094.2:c.824C>T" ], "proteinEffect": { "hgvs": "XP_011512396.1:p.Ala275Val", "hgvsWellDefined": "XP_011512396.1:p.Ala275Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS543184" }, { "coordinates": [ { "allele": "T", "end": 3549, "referenceAllele": "C", "start": 3548 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009760.1:c.3410C>T" ], "proteinEffect": { "hgvs": "XP_016865249.1:p.Ala1137Val", "hgvsWellDefined": "XP_016865249.1:p.Ala1137Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS563982" }, { "coordinates": [ { "allele": "T", "end": 3576, "referenceAllele": "C", "start": 3575 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009761.2:c.3410C>T" ], "proteinEffect": { "hgvs": "XP_016865250.1:p.Ala1137Val", "hgvsWellDefined": "XP_016865250.1:p.Ala1137Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS563983" }, { "coordinates": [ { "allele": "T", "end": 3149, "referenceAllele": "C", "start": 3148 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009763.1:c.2606C>T" ], "proteinEffect": { "hgvs": "XP_016865252.1:p.Ala869Val", "hgvsWellDefined": "XP_016865252.1:p.Ala869Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS563984" }, { "coordinates": [ { "allele": "T", "end": 3518, "referenceAllele": "C", "start": 3517 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009765.1:c.2411C>T" ], "proteinEffect": { "hgvs": "XP_016865254.1:p.Ala804Val", "hgvsWellDefined": "XP_016865254.1:p.Ala804Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS563985" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_017009766.1:c.242C>T" ], "proteinEffect": { "hgvs": "XP_016865255.1:p.Ala81Val", "hgvsWellDefined": "XP_016865255.1:p.Ala81Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS563986" }, { "coordinates": [ { "allele": "T", "end": 3814, "referenceAllele": "C", "start": 3813 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446183.1:c.3410C>T" ], "proteinEffect": { "hgvs": "XP_024301951.1:p.Ala1137Val", "hgvsWellDefined": "XP_024301951.1:p.Ala1137Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS579857" }, { "coordinates": [ { "allele": "T", "end": 3754, "referenceAllele": "C", "start": 3753 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446184.1:c.3281C>T" ], "proteinEffect": { "hgvs": "XP_024301952.1:p.Ala1094Val", "hgvsWellDefined": "XP_024301952.1:p.Ala1094Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS579858" }, { "coordinates": [ { "allele": "T", "end": 3647, "referenceAllele": "C", "start": 3646 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446185.1:c.2927C>T" ], "proteinEffect": { "hgvs": "XP_024301953.1:p.Ala976Val", "hgvsWellDefined": "XP_024301953.1:p.Ala976Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS579859" }, { "coordinates": [ { "allele": "T", "end": 3797, "referenceAllele": "C", "start": 3796 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XM_024446186.1:c.2606C>T" ], "proteinEffect": { "hgvs": "XP_024301954.1:p.Ala869Val", "hgvsWellDefined": "XP_024301954.1:p.Ala869Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS579860" }, { "coordinates": [ { "allele": "T", "end": 3823, "referenceAllele": "C", "start": 3822 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_001742208.1:n.3823C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591983" }, { "coordinates": [ { "allele": "T", "end": 3823, "referenceAllele": "C", "start": 3822 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_002956171.1:n.3823C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602333" }, { "coordinates": [ { "allele": "T", "end": 3823, "referenceAllele": "C", "start": 3822 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "XR_925644.2:n.3823C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS608055" }, { "@id": "http://reg.genome.network/allele/PA2828981511", "coordinates": [ { "allele": "T", "end": 3778, "referenceAllele": "C", "start": 3777 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_001384732.1:c.3599C>T" ], "proteinEffect": { "hgvs": "NP_001371661.1:p.Ala1200Val", "hgvsWellDefined": "NP_001371661.1:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS723125", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651892.2:c.3599C>T" }, "RefSeq": { "hgvs": "NM_001384732.1:c.3599C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498265.2:p.Ala1200Val" }, "RefSeq": { "hgvs": "NP_001371661.1:p.Ala1200Val" } } } }, { "@id": "http://reg.genome.network/allele/PA277733", "coordinates": [ { "allele": "T", "end": 3778, "referenceAllele": "C", "start": 3777 } ], "gene": "http://reg.genome.network/gene/GN025801", "geneNCBI_id": 65250, "geneSymbol": "CPLANE1", "hgvs": [ "NM_023073.4:c.3599C>T" ], "proteinEffect": { "hgvs": "NP_075561.3:p.Ala1200Val", "hgvsWellDefined": "NP_075561.3:p.Ala1200Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS728617" } ], "type": "nucleotide" }