{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16620797", "communityStandardTitle": [ "NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=259886", "active": true, "id": "COSM259886" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=259887", "active": true, "id": "COSM259887" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2817767", "active": true, "id": "COSM2817767" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2817768", "active": true, "id": "COSM2817768" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410533[alleleid]", "alleleId": 410533, "preferredName": "NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420057", "RCV": [ "RCV000487043", "RCV002526562", "RCV002470870" ], "variationId": 420057 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.13423557C>T?assembly=hg19", "id": "chr19:g.13423557C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.13312743C>T?assembly=hg38", "id": "chr19:g.13312743C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794263", "rs": 1064794263 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-13312743-C-T?dataset=gnomad_r3", "id": "19-13312743-C-T", "variant": "19:13312743 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-13312743-C-T?dataset=gnomad_r4", "id": "19-13312743-C-T", "variant": "19:13312743 C / T" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 13312743, "referenceAllele": "C", "start": 13312742 } ], "hgvs": [ "NC_000019.10:g.13312743C>T", "CM000681.2:g.13312743C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 13423557, "referenceAllele": "C", "start": 13423556 } ], "hgvs": [ "NC_000019.9:g.13423557C>T", "CM000681.1:g.13423557C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 13284557, "referenceAllele": "C", "start": 13284556 } ], "hgvs": [ "NC_000019.8:g.13284557C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 198718, "referenceAllele": "G", "start": 198717 } ], "hgvs": [ "NG_011569.1:g.198718G>A", "LRG_7:g.198718G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001829" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1849, "referenceAllele": "G", "start": 1848 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000360228.11:c.1594G>A" ], "proteinEffect": { "hgvs": "ENSP00000353362.5:p.Glu532Lys", "hgvsWellDefined": "ENSP00000353362.5:p.Glu532Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS749291", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360228.11:c.1594G>A" }, "RefSeq": { "hgvs": "NM_001127222.2:c.1594G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353362.5:p.Glu532Lys" }, "RefSeq": { "hgvs": "NP_001120694.1:p.Glu532Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1631, "referenceAllele": "G", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000573710.7:c.1600G>A" ], "proteinEffect": { "hgvs": "ENSP00000460092.3:p.Glu534Lys", "hgvsWellDefined": "ENSP00000460092.3:p.Glu534Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS760716" }, { "coordinates": [ { "allele": "A", "end": 1597, "referenceAllele": "G", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000635727.1:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000490001.1:p.Glu533Lys", "hgvsWellDefined": "ENSP00000490001.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762598" }, { "coordinates": [ { "allele": "A", "end": 1868, "referenceAllele": "G", "start": 1867 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000635895.1:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000490323.1:p.Glu533Lys", "hgvsWellDefined": "ENSP00000490323.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762719" }, { "coordinates": [ { "allele": "A", "end": 1597, "referenceAllele": "G", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636012.1:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000490223.1:p.Glu533Lys", "hgvsWellDefined": "ENSP00000490223.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762807" }, { "coordinates": [ { "allele": "A", "end": 461, "referenceAllele": "G", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636022.1:n.461G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762815" }, { "coordinates": [ { "allele": "A", "end": 1645, "referenceAllele": "G", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636389.1:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000489992.1:p.Glu533Lys", "hgvsWellDefined": "ENSP00000489992.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS763077" }, { "coordinates": [ { "allele": "A", "end": 1597, "referenceAllele": "G", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636549.1:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000490578.1:p.Glu533Lys", "hgvsWellDefined": "ENSP00000490578.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS763201" }, { "coordinates": [ { "allele": "A", "end": 956, "referenceAllele": "G", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636974.1:n.956G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763517" }, { "coordinates": [ { "allele": "A", "end": 1597, "referenceAllele": "G", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637276.1:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000489777.1:p.Glu533Lys", "hgvsWellDefined": "ENSP00000489777.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS763746" }, { "coordinates": [ { "allele": "A", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637432.1:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000490617.1:p.Glu533Lys", "hgvsWellDefined": "ENSP00000490617.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS763858" }, { "coordinates": [ { "allele": "A", "end": 1691, "referenceAllele": "G", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637736.1:c.1456G>A" ], "proteinEffect": { "hgvs": "ENSP00000489861.1:p.Glu486Lys", "hgvsWellDefined": "ENSP00000489861.1:p.Glu486Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764074" }, { "coordinates": [ { "allele": "A", "end": 1853, "referenceAllele": "G", "start": 1852 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637769.1:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000489778.1:p.Glu533Lys", "hgvsWellDefined": "ENSP00000489778.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764094" }, { "coordinates": [ { "allele": "A", "end": 1631, "referenceAllele": "G", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637927.1:c.1600G>A" ], "proteinEffect": { "hgvs": "ENSP00000489715.1:p.Glu534Lys", "hgvsWellDefined": "ENSP00000489715.1:p.Glu534Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764214" }, { "coordinates": [ { "allele": "A", "end": 1450, "referenceAllele": "G", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637966.1:n.1450G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764245" }, { "coordinates": [ { "allele": "A", "end": 1852, "referenceAllele": "G", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000638009.2:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000489913.1:p.Glu533Lys", "hgvsWellDefined": "ENSP00000489913.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764272" }, { "coordinates": [ { "allele": "A", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000638029.1:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000489829.1:p.Glu533Lys", "hgvsWellDefined": "ENSP00000489829.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764286" }, { "coordinates": [ { "allele": "A", "end": 1792, "referenceAllele": "G", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000664864.1:c.1792G>A" ], "proteinEffect": { "hgvs": "ENSP00000499449.1:p.Glu598Lys", "hgvsWellDefined": "ENSP00000499449.1:p.Glu598Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS772875" }, { "coordinates": [ { "allele": "A", "end": 1594, "referenceAllele": "G", "start": 1593 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000360228.9:c.1594G>A" ], "proteinEffect": { "hgvs": "ENSP00000353362.5:p.Glu532Lys", "hgvsWellDefined": "ENSP00000353362.5:p.Glu532Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS265055" }, { "coordinates": [ { "allele": "A", "end": 1876, "referenceAllele": "G", "start": 1875 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000573710.6:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000460092.2:p.Glu533Lys", "hgvsWellDefined": "ENSP00000460092.2:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS383401" }, { "coordinates": [ { "allele": "A", "end": 1597, "referenceAllele": "G", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000614285.4:c.1597G>A" ], "proteinEffect": { "hgvs": "ENSP00000479983.1:p.Glu533Lys", "hgvsWellDefined": "ENSP00000479983.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS402117" }, { "@id": "http://reg.genome.network/allele/PA2825010405", "coordinates": [ { "allele": "A", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_000068.3:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_000059.3:p.Glu533Lys", "hgvsWellDefined": "NP_000059.3:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006132" }, { "@id": "http://reg.genome.network/allele/PA645449154", "coordinates": [ { "allele": "A", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127221.1:c.1597G>A", "LRG_7t1:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_001120693.1:p.Glu533Lys", "hgvsWellDefined": "NP_001120693.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011554" }, { "@id": "http://reg.genome.network/allele/PA2825595613", "coordinates": [ { "allele": "A", "end": 1830, "referenceAllele": "G", "start": 1829 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127222.1:c.1594G>A" ], "proteinEffect": { "hgvs": "NP_001120694.1:p.Glu532Lys", "hgvsWellDefined": "NP_001120694.1:p.Glu532Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011555" }, { "@id": "http://reg.genome.network/allele/PA2826103863", "coordinates": [ { "allele": "A", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001174080.1:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_001167551.1:p.Glu533Lys", "hgvsWellDefined": "NP_001167551.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS015653" }, { "@id": "http://reg.genome.network/allele/PA916069798", "coordinates": [ { "allele": "A", "end": 1833, "referenceAllele": "G", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_023035.2:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_075461.2:p.Glu533Lys", "hgvsWellDefined": "NP_075461.2:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS037547" }, { "@id": "http://reg.genome.network/allele/PA2825010405", "coordinates": [ { "allele": "A", "end": 1852, "referenceAllele": "G", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_000068.4:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_000059.3:p.Glu533Lys", "hgvsWellDefined": "NP_000059.3:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS674685" }, { "@id": "http://reg.genome.network/allele/PA2825595613", "coordinates": [ { "allele": "A", "end": 1849, "referenceAllele": "G", "start": 1848 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127222.2:c.1594G>A" ], "proteinEffect": { "hgvs": "NP_001120694.1:p.Glu532Lys", "hgvsWellDefined": "NP_001120694.1:p.Glu532Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676856", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360228.11:c.1594G>A" }, "RefSeq": { "hgvs": "NM_001127222.2:c.1594G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353362.5:p.Glu532Lys" }, "RefSeq": { "hgvs": "NP_001120694.1:p.Glu532Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2826103863", "coordinates": [ { "allele": "A", "end": 1852, "referenceAllele": "G", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001174080.2:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_001167551.1:p.Glu533Lys", "hgvsWellDefined": "NP_001167551.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS678846" }, { "@id": "http://reg.genome.network/allele/PA916069798", "coordinates": [ { "allele": "A", "end": 1852, "referenceAllele": "G", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_023035.3:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_075461.2:p.Glu533Lys", "hgvsWellDefined": "NP_075461.2:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS698619" }, { "@id": "http://reg.genome.network/allele/PA645449154", "coordinates": [ { "allele": "A", "end": 1852, "referenceAllele": "G", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127221.2:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_001120693.1:p.Glu533Lys", "hgvsWellDefined": "NP_001120693.1:p.Glu533Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS712197" } ], "type": "nucleotide" }