{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7534430", "communityStandardTitle": [ "NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=465059[alleleid]", "alleleId": 465059, "preferredName": "NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/466538", "RCV": [ "RCV000541207", "RCV001848946", "RCV002467875", "RCV002467874", "RCV003372748", "RCV002509426" ], "variationId": 466538 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-44876563-C-T", "id": "15-44876563-C-T", "variant": "15:44876563 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.44876563C>T?assembly=hg19", "id": "chr15:g.44876563C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.44584365C>T?assembly=hg38", "id": "chr15:g.44584365C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/150823040", "rs": 150823040 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-44876563-C-T?dataset=gnomad_r2_1", "id": "15-44876563-C-T", "variant": "15:44876563 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-44584365-C-T?dataset=gnomad_r3", "id": "15-44584365-C-T", "variant": "15:44584365 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-44584365-C-T?dataset=gnomad_r4", "id": "15-44584365-C-T", "variant": "15:44584365 C / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 44584365, "referenceAllele": "C", "start": 44584364 } ], "hgvs": [ "NC_000015.10:g.44584365C>T", "CM000677.2:g.44584365C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 44876563, "referenceAllele": "C", "start": 44876562 } ], "hgvs": [ "NC_000015.9:g.44876563C>T", "CM000677.1:g.44876563C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 42663855, "referenceAllele": "C", "start": 42663854 } ], "hgvs": [ "NC_000015.8:g.42663855C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 84314, "referenceAllele": "G", "start": 84313 } ], "hgvs": [ "NG_008885.1:g.84314G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001280" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5315, "referenceAllele": "G", "start": 5314 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000559511.6:c.5315G>A" ], "proteinEffect": { "hgvs": "ENSP00000453246.2:p.Arg1772His", "hgvsWellDefined": "ENSP00000453246.2:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS826071" }, { "coordinates": [ { "allele": "A", "end": 1543, "referenceAllele": "G", "start": 1542 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000561391.2:n.1543G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826078" }, { "coordinates": [ { "allele": "A", "end": 5202, "referenceAllele": "G", "start": 5201 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682065.1:c.5171G>A" ], "proteinEffect": { "hgvs": "ENSP00000507025.1:p.Arg1724His", "hgvsWellDefined": "ENSP00000507025.1:p.Arg1724His" }, "referenceSequence": "http://reg.genome.network/refseq/RS827063" }, { "coordinates": [ { "allele": "A", "end": 5269, "referenceAllele": "G", "start": 5268 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682460.1:c.*1572G>A" ], "proteinEffect": { "hgvs": "ENSP00000508334.1:n.*1572G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827450" }, { "coordinates": [ { "allele": "A", "end": 5471, "referenceAllele": "G", "start": 5470 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682495.1:c.*1807G>A" ], "proteinEffect": { "hgvs": "ENSP00000507166.1:n.*1807G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827485" }, { "coordinates": [ { "allele": "A", "end": 5145, "referenceAllele": "G", "start": 5144 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682669.1:c.5114G>A" ], "proteinEffect": { "hgvs": "ENSP00000507782.1:p.Arg1705His", "hgvsWellDefined": "ENSP00000507782.1:p.Arg1705His" }, "referenceSequence": "http://reg.genome.network/refseq/RS827658" }, { "coordinates": [ { "allele": "A", "end": 5156, "referenceAllele": "G", "start": 5155 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683186.1:c.*2078G>A" ], "proteinEffect": { "hgvs": "ENSP00000507268.1:n.*2078G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828169" }, { "coordinates": [ { "allele": "A", "end": 5346, "referenceAllele": "G", "start": 5345 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683496.1:c.5315G>A" ], "proteinEffect": { "hgvs": "ENSP00000506968.1:p.Arg1772His", "hgvsWellDefined": "ENSP00000506968.1:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS828470" }, { "coordinates": [ { "allele": "A", "end": 5330, "referenceAllele": "G", "start": 5329 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683734.1:c.5315G>A" ], "proteinEffect": { "hgvs": "ENSP00000508319.1:p.Arg1772His", "hgvsWellDefined": "ENSP00000508319.1:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS828705" }, { "coordinates": [ { "allele": "A", "end": 4361, "referenceAllele": "G", "start": 4360 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683753.1:n.4361G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828724" }, { "coordinates": [ { "allele": "A", "end": 5164, "referenceAllele": "G", "start": 5163 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684038.1:c.*1735G>A" ], "proteinEffect": { "hgvs": "ENSP00000507141.1:n.*1735G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828999" }, { "coordinates": [ { "allele": "A", "end": 5346, "referenceAllele": "G", "start": 5345 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684235.1:c.5315G>A" ], "proteinEffect": { "hgvs": "ENSP00000508295.1:p.Arg1772His", "hgvsWellDefined": "ENSP00000508295.1:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS829192" }, { "coordinates": [ { "allele": "A", "end": 5356, "referenceAllele": "G", "start": 5355 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684676.1:c.5315G>A" ], "proteinEffect": { "hgvs": "ENSP00000506948.1:p.Arg1772His", "hgvsWellDefined": "ENSP00000506948.1:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS829627" }, { "coordinates": [ { "allele": "A", "end": 5330, "referenceAllele": "G", "start": 5329 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000261866.12:c.5315G>A" ], "proteinEffect": { "hgvs": "ENSP00000261866.7:p.Arg1772His", "hgvsWellDefined": "ENSP00000261866.7:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS742228", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.5315G>A" }, "RefSeq": { "hgvs": "NM_025137.4:c.5315G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Arg1772His" }, "RefSeq": { "hgvs": "NP_079413.3:p.Arg1772His" } } } }, { "coordinates": [ { "allele": "A", "end": 5332, "referenceAllele": "G", "start": 5331 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000261866.11:c.5315G>A" ], "proteinEffect": { "hgvs": "ENSP00000261866.7:p.Arg1772His", "hgvsWellDefined": "ENSP00000261866.7:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS250869" }, { "coordinates": [ { "allele": "A", "end": 5315, "referenceAllele": "G", "start": 5314 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000427534.6:c.5315G>A" ], "proteinEffect": { "hgvs": "ENSP00000396110.2:p.Arg1772His", "hgvsWellDefined": "ENSP00000396110.2:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS289750" }, { "coordinates": [ { "allele": "A", "end": 5343, "referenceAllele": "G", "start": 5342 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000535302.6:c.5315G>A" ], "proteinEffect": { "hgvs": "ENSP00000445278.2:p.Arg1772His", "hgvsWellDefined": "ENSP00000445278.2:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS359651" }, { "coordinates": [ { "allele": "A", "end": 5346, "referenceAllele": "G", "start": 5345 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000558319.5:c.5315G>A" ], "proteinEffect": { "hgvs": "ENSP00000453599.1:p.Arg1772His", "hgvsWellDefined": "ENSP00000453599.1:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS373709" }, { "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "G", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000558790.5:n.752G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS374071" }, { "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000559511.5:c.163G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS374643" }, { "coordinates": [ { "allele": "A", "end": 87, "referenceAllele": "G", "start": 86 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000559822.1:c.87G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS374888" }, { "@id": "http://reg.genome.network/allele/PA2825948172", "coordinates": [ { "allele": "A", "end": 5346, "referenceAllele": "G", "start": 5345 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.1:c.5315G>A" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Arg1772His", "hgvsWellDefined": "NP_001153699.1:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS014158" }, { "@id": "http://reg.genome.network/allele/PA658661492", "coordinates": [ { "allele": "A", "end": 5346, "referenceAllele": "G", "start": 5345 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.3:c.5315G>A" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Arg1772His", "hgvsWellDefined": "NP_079413.3:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS038221" }, { "coordinates": [ { "allele": "A", "end": 5082, "referenceAllele": "G", "start": 5081 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_005254695.3:c.5057G>A" ], "proteinEffect": { "hgvs": "XP_005254752.1:p.Arg1686His", "hgvsWellDefined": "XP_005254752.1:p.Arg1686His" }, "referenceSequence": "http://reg.genome.network/refseq/RS060735" }, { "coordinates": [ { "allele": "A", "end": 5202, "referenceAllele": "G", "start": 5201 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720700.1:c.5171G>A" ], "proteinEffect": { "hgvs": "XP_006720763.1:p.Arg1724His", "hgvsWellDefined": "XP_006720763.1:p.Arg1724His" }, "referenceSequence": "http://reg.genome.network/refseq/RS073770" }, { "coordinates": [ { "allele": "A", "end": 5346, "referenceAllele": "G", "start": 5345 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022634.1:c.5315G>A" ], "proteinEffect": { "hgvs": "XP_016878123.1:p.Arg1772His", "hgvsWellDefined": "XP_016878123.1:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS573547" }, { "coordinates": [ { "allele": "A", "end": 3155, "referenceAllele": "G", "start": 3154 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022636.1:c.2192G>A" ], "proteinEffect": { "hgvs": "XP_016878125.1:p.Arg731His", "hgvsWellDefined": "XP_016878125.1:p.Arg731His" }, "referenceSequence": "http://reg.genome.network/refseq/RS573549" }, { "coordinates": [ { "allele": "A", "end": 5369, "referenceAllele": "G", "start": 5368 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XR_931917.2:n.5369G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610061" }, { "@id": "http://reg.genome.network/allele/PA658661492", "coordinates": [ { "allele": "A", "end": 5330, "referenceAllele": "G", "start": 5329 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.4:c.5315G>A" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Arg1772His", "hgvsWellDefined": "NP_079413.3:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS670903", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.5315G>A" }, "RefSeq": { "hgvs": "NM_025137.4:c.5315G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Arg1772His" }, "RefSeq": { "hgvs": "NP_079413.3:p.Arg1772His" } } } }, { "@id": "http://reg.genome.network/allele/PA2825948172", "coordinates": [ { "allele": "A", "end": 5330, "referenceAllele": "G", "start": 5329 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.2:c.5315G>A" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Arg1772His", "hgvsWellDefined": "NP_001153699.1:p.Arg1772His" }, "referenceSequence": "http://reg.genome.network/refseq/RS678139" } ], "type": "nucleotide" }