{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA404967427", "communityStandardTitle": [ "NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415635[alleleid]", "alleleId": 415635, "preferredName": "NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426878", "RCV": [ "RCV000489287", "RCV003313959" ], "variationId": 426878 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.13563703C>T?assembly=hg19", "id": "chr19:g.13563703C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.13452889C>T?assembly=hg38", "id": "chr19:g.13452889C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057521920", "rs": 1057521920 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 13452889, "referenceAllele": "C", "start": 13452888 } ], "hgvs": [ "NC_000019.10:g.13452889C>T", "CM000681.2:g.13452889C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 13563703, "referenceAllele": "C", "start": 13563702 } ], "hgvs": [ "NC_000019.9:g.13563703C>T", "CM000681.1:g.13563703C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 13424703, "referenceAllele": "C", "start": 13424702 } ], "hgvs": [ "NC_000019.8:g.13424703C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 58572, "referenceAllele": "G", "start": 58571 } ], "hgvs": [ "NG_011569.1:g.58572G>A", "LRG_7:g.58572G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001829" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000360228.11:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000353362.5:p.Val176Met", "hgvsWellDefined": "ENSP00000353362.5:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS749291", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360228.11:c.526G>A" }, "RefSeq": { "hgvs": "NM_001127222.2:c.526G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353362.5:p.Val176Met" }, "RefSeq": { "hgvs": "NP_001120694.1:p.Val176Met" } } } }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000573710.7:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000460092.3:p.Val176Met", "hgvsWellDefined": "ENSP00000460092.3:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS760716" }, { "coordinates": [ { "allele": "A", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000574974.3:c.*158G>A" ], "proteinEffect": { "hgvs": "ENSP00000459963.2:n.*158G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS760753" }, { "coordinates": [ { "allele": "A", "end": 241, "referenceAllele": "G", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000593160.2:n.241G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS761309" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000635727.1:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000490001.1:p.Val176Met", "hgvsWellDefined": "ENSP00000490001.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS762598" }, { "coordinates": [ { "allele": "A", "end": 797, "referenceAllele": "G", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000635895.1:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000490323.1:p.Val176Met", "hgvsWellDefined": "ENSP00000490323.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS762719" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636012.1:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000490223.1:p.Val176Met", "hgvsWellDefined": "ENSP00000490223.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS762807" }, { "coordinates": [ { "allele": "A", "end": 574, "referenceAllele": "G", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636389.1:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000489992.1:p.Val176Met", "hgvsWellDefined": "ENSP00000489992.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS763077" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636549.1:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000490578.1:p.Val176Met", "hgvsWellDefined": "ENSP00000490578.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS763201" }, { "coordinates": [ { "allele": "A", "end": 414, "referenceAllele": "G", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636966.1:n.414G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763512" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637276.1:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000489777.1:p.Val176Met", "hgvsWellDefined": "ENSP00000489777.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS763746" }, { "coordinates": [ { "allele": "A", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637432.1:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000490617.1:p.Val176Met", "hgvsWellDefined": "ENSP00000490617.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS763858" }, { "coordinates": [ { "allele": "A", "end": 534, "referenceAllele": "G", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637616.1:n.534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763989" }, { "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637736.1:c.385G>A" ], "proteinEffect": { "hgvs": "ENSP00000489861.1:p.Val129Met", "hgvsWellDefined": "ENSP00000489861.1:p.Val129Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS764074" }, { "coordinates": [ { "allele": "A", "end": 782, "referenceAllele": "G", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637769.1:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000489778.1:p.Val176Met", "hgvsWellDefined": "ENSP00000489778.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS764094" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637927.1:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000489715.1:p.Val176Met", "hgvsWellDefined": "ENSP00000489715.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS764214" }, { "coordinates": [ { "allele": "A", "end": 379, "referenceAllele": "G", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637966.1:n.379G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764245" }, { "coordinates": [ { "allele": "A", "end": 344, "referenceAllele": "G", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637981.1:n.344G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764254" }, { "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000638009.2:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000489913.1:p.Val176Met", "hgvsWellDefined": "ENSP00000489913.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS764272" }, { "coordinates": [ { "allele": "A", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000638029.1:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000489829.1:p.Val176Met", "hgvsWellDefined": "ENSP00000489829.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS764286" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000664864.1:c.721G>A" ], "proteinEffect": { "hgvs": "ENSP00000499449.1:p.Val241Met", "hgvsWellDefined": "ENSP00000499449.1:p.Val241Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS772875" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000360228.9:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000353362.5:p.Val176Met", "hgvsWellDefined": "ENSP00000353362.5:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS265055" }, { "coordinates": [ { "allele": "A", "end": 805, "referenceAllele": "G", "start": 804 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000573710.6:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000460092.2:p.Val176Met", "hgvsWellDefined": "ENSP00000460092.2:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS383401" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000574974.1:c.277G>A" ], "proteinEffect": { "hgvs": "ENSP00000459963.1:p.Val93Met", "hgvsWellDefined": "ENSP00000459963.1:p.Val93Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS383914" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000614285.4:c.526G>A" ], "proteinEffect": { "hgvs": "ENSP00000479983.1:p.Val176Met", "hgvsWellDefined": "ENSP00000479983.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS402117" }, { "@id": "http://reg.genome.network/allele/PA2825009830", "coordinates": [ { "allele": "A", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_000068.3:c.526G>A" ], "proteinEffect": { "hgvs": "NP_000059.3:p.Val176Met", "hgvsWellDefined": "NP_000059.3:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS006132" }, { "@id": "http://reg.genome.network/allele/PA645449060", "coordinates": [ { "allele": "A", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127221.1:c.526G>A", "LRG_7t1:c.526G>A" ], "proteinEffect": { "hgvs": "NP_001120693.1:p.Val176Met", "hgvsWellDefined": "NP_001120693.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS011554" }, { "@id": "http://reg.genome.network/allele/PA2825594907", "coordinates": [ { "allele": "A", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127222.1:c.526G>A" ], "proteinEffect": { "hgvs": "NP_001120694.1:p.Val176Met", "hgvsWellDefined": "NP_001120694.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS011555" }, { "@id": "http://reg.genome.network/allele/PA2826103231", "coordinates": [ { "allele": "A", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001174080.1:c.526G>A" ], "proteinEffect": { "hgvs": "NP_001167551.1:p.Val176Met", "hgvsWellDefined": "NP_001167551.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS015653" }, { "@id": "http://reg.genome.network/allele/PA916069584", "coordinates": [ { "allele": "A", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_023035.2:c.526G>A" ], "proteinEffect": { "hgvs": "NP_075461.2:p.Val176Met", "hgvsWellDefined": "NP_075461.2:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS037547" }, { "@id": "http://reg.genome.network/allele/PA2825009830", "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_000068.4:c.526G>A" ], "proteinEffect": { "hgvs": "NP_000059.3:p.Val176Met", "hgvsWellDefined": "NP_000059.3:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS674685" }, { "@id": "http://reg.genome.network/allele/PA2825594907", "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127222.2:c.526G>A" ], "proteinEffect": { "hgvs": "NP_001120694.1:p.Val176Met", "hgvsWellDefined": "NP_001120694.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS676856", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360228.11:c.526G>A" }, "RefSeq": { "hgvs": "NM_001127222.2:c.526G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353362.5:p.Val176Met" }, "RefSeq": { "hgvs": "NP_001120694.1:p.Val176Met" } } } }, { "@id": "http://reg.genome.network/allele/PA2826103231", "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001174080.2:c.526G>A" ], "proteinEffect": { "hgvs": "NP_001167551.1:p.Val176Met", "hgvsWellDefined": "NP_001167551.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS678846" }, { "@id": "http://reg.genome.network/allele/PA916069584", "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_023035.3:c.526G>A" ], "proteinEffect": { "hgvs": "NP_075461.2:p.Val176Met", "hgvsWellDefined": "NP_075461.2:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS698619" }, { "@id": "http://reg.genome.network/allele/PA645449060", "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127221.2:c.526G>A" ], "proteinEffect": { "hgvs": "NP_001120693.1:p.Val176Met", "hgvsWellDefined": "NP_001120693.1:p.Val176Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS712197" } ], "type": "nucleotide" }