{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2323807474", "communityStandardTitle": [ "NM_001127222.2(CACNA1A):c.4383G= (p.Trp1461=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518069", "rs": 1057518069 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "C", "end": 13259569, "referenceAllele": "C", "start": 13259568 } ], "hgvs": [ "NC_000019.10:g.13259569C=", "CM000681.2:g.13259569C=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "C", "end": 13370383, "referenceAllele": "C", "start": 13370382 } ], "hgvs": [ "NC_000019.9:g.13370383C=", "CM000681.1:g.13370383C=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "C", "end": 13231383, "referenceAllele": "C", "start": 13231382 } ], "hgvs": [ "NC_000019.8:g.13231383C=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "G", "end": 251892, "referenceAllele": "G", "start": 251891 } ], "hgvs": [ "NG_011569.1:g.251892G=", "LRG_7:g.251892G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001829" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 4638, "referenceAllele": "G", "start": 4637 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000360228.11:c.4383G=" ], "proteinEffect": { "hgvs": "ENSP00000353362.5:p.Trp1461=" }, "referenceSequence": "http://reg.genome.network/refseq/RS749291", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360228.11:c.4383G=" }, "RefSeq": { "hgvs": "NM_001127222.2:c.4383G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353362.5:p.Trp1461=" }, "RefSeq": { "hgvs": "NP_001120694.1:p.Trp1461=" } } } }, { "coordinates": [ { "allele": "G", "end": 4420, "referenceAllele": "G", "start": 4419 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000573710.7:c.4389G=" ], "proteinEffect": { "hgvs": "ENSP00000460092.3:p.Trp1463=" }, "referenceSequence": "http://reg.genome.network/refseq/RS760716" }, { "coordinates": [ { "allele": "G", "end": 3137, "referenceAllele": "G", "start": 3136 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000590205.2:n.3137G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS761191" }, { "coordinates": [ { "allele": "G", "end": 4386, "referenceAllele": "G", "start": 4385 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000635727.1:c.4386G=" ], "proteinEffect": { "hgvs": "ENSP00000490001.1:p.Trp1462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS762598" }, { "coordinates": [ { "allele": "G", "end": 372, "referenceAllele": "G", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000635742.1:n.372G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS762608" }, { "coordinates": [ { "allele": "G", "end": 4657, "referenceAllele": "G", "start": 4656 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000635895.1:c.4386G=" ], "proteinEffect": { "hgvs": "ENSP00000490323.1:p.Trp1462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS762719" }, { "coordinates": [ { "allele": "G", "end": 875, "referenceAllele": "G", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000635917.1:n.875G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS762734" }, { "coordinates": [ { "allele": "G", "end": 4386, "referenceAllele": "G", "start": 4385 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636012.1:c.4386G=" ], "proteinEffect": { "hgvs": "ENSP00000490223.1:p.Trp1462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS762807" }, { "coordinates": [ { "allele": "G", "end": 4434, "referenceAllele": "G", "start": 4433 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636389.1:c.4386G=" ], "proteinEffect": { "hgvs": "ENSP00000489992.1:p.Trp1462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS763077" }, { "coordinates": [ { "allele": "G", "end": 4386, "referenceAllele": "G", "start": 4385 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636549.1:c.4386G=" ], "proteinEffect": { "hgvs": "ENSP00000490578.1:p.Trp1462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS763201" }, { "coordinates": [ { "allele": "G", "end": 1071, "referenceAllele": "G", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636816.1:n.1071G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS763403" }, { "coordinates": [ { "allele": "G", "end": 666, "referenceAllele": "G", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636984.1:n.666G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS763521" }, { "coordinates": [ { "allele": "G", "end": 849, "referenceAllele": "G", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637004.1:n.849G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS763540" }, { "coordinates": [ { "allele": "G", "end": 4386, "referenceAllele": "G", "start": 4385 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637276.1:c.4386G=" ], "proteinEffect": { "hgvs": "ENSP00000489777.1:p.Trp1462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS763746" }, { "coordinates": [ { "allele": "G", "end": 39, "referenceAllele": "G", "start": 38 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637297.1:c.39G=" ], "proteinEffect": { "hgvs": "ENSP00000489692.1:p.Trp13=" }, "referenceSequence": "http://reg.genome.network/refseq/RS763763" }, { "coordinates": [ { "allele": "G", "end": 4631, "referenceAllele": "G", "start": 4630 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637432.1:c.4395G=" ], "proteinEffect": { "hgvs": "ENSP00000490617.1:p.Trp1465=" }, "referenceSequence": "http://reg.genome.network/refseq/RS763858" }, { "coordinates": [ { "allele": "G", "end": 705, "referenceAllele": "G", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637692.1:n.705G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS764041" }, { "coordinates": [ { "allele": "G", "end": 4480, "referenceAllele": "G", "start": 4479 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637736.1:c.4245G=" ], "proteinEffect": { "hgvs": "ENSP00000489861.1:p.Trp1415=" }, "referenceSequence": "http://reg.genome.network/refseq/RS764074" }, { "coordinates": [ { "allele": "G", "end": 4642, "referenceAllele": "G", "start": 4641 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637769.1:c.4386G=" ], "proteinEffect": { "hgvs": "ENSP00000489778.1:p.Trp1462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS764094" }, { "coordinates": [ { "allele": "G", "end": 4420, "referenceAllele": "G", "start": 4419 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637927.1:c.4389G=" ], "proteinEffect": { "hgvs": "ENSP00000489715.1:p.Trp1463=" }, "referenceSequence": "http://reg.genome.network/refseq/RS764214" }, { "coordinates": [ { "allele": "G", "end": 4641, "referenceAllele": "G", "start": 4640 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000638009.2:c.4386G=" ], "proteinEffect": { "hgvs": "ENSP00000489913.1:p.Trp1462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS764272" }, { "coordinates": [ { "allele": "G", "end": 4631, "referenceAllele": "G", "start": 4630 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000638029.1:c.4395G=" ], "proteinEffect": { "hgvs": "ENSP00000489829.1:p.Trp1465=" }, "referenceSequence": "http://reg.genome.network/refseq/RS764286" }, { "coordinates": [ { "allele": "G", "end": 4581, "referenceAllele": "G", "start": 4580 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000664864.1:c.4581G=" ], "proteinEffect": { "hgvs": "ENSP00000499449.1:p.Trp1527=" }, "referenceSequence": "http://reg.genome.network/refseq/RS772875" }, { "coordinates": [ { "allele": "G", "end": 4383, "referenceAllele": "G", "start": 4382 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000360228.9:c.4383G=" ], "proteinEffect": { "hgvs": "ENSP00000353362.5:p.Trp1461=" }, "referenceSequence": "http://reg.genome.network/refseq/RS265055" }, { "coordinates": [ { "allele": "G", "end": 4665, "referenceAllele": "G", "start": 4664 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000573710.6:c.4386G=" ], "proteinEffect": { "hgvs": "ENSP00000460092.2:p.Trp1462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS383401" }, { "coordinates": [ { "allele": "G", "end": 441, "referenceAllele": "G", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000585802.5:c.441G=" ], "proteinEffect": { "hgvs": "ENSP00000465598.1:p.Trp147=" }, "referenceSequence": "http://reg.genome.network/refseq/RS388955" }, { "coordinates": [ { "allele": "G", "end": 4395, "referenceAllele": "G", "start": 4394 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000614285.4:c.4395G=" ], "proteinEffect": { "hgvs": "ENSP00000479983.1:p.Trp1465=" }, "referenceSequence": "http://reg.genome.network/refseq/RS402117" }, { "@id": "http://reg.genome.network/allele/PA3086623912", "coordinates": [ { "allele": "G", "end": 4631, "referenceAllele": "G", "start": 4630 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_000068.3:c.4395G=" ], "proteinEffect": { "hgvs": "NP_000059.3:p.Trp1465=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006132" }, { "coordinates": [ { "allele": "G", "end": 4622, "referenceAllele": "G", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127221.1:c.4386G=", "LRG_7t1:c.4386G=" ], "proteinEffect": { "hgvs": "NP_001120693.1:p.Trp1462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS011554" }, { "coordinates": [ { "allele": "G", "end": 4619, "referenceAllele": "G", "start": 4618 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127222.1:c.4383G=" ], "proteinEffect": { "hgvs": "NP_001120694.1:p.Trp1461=" }, "referenceSequence": "http://reg.genome.network/refseq/RS011555" }, { "coordinates": [ { "allele": "G", "end": 4622, "referenceAllele": "G", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001174080.1:c.4386G=" ], "proteinEffect": { "hgvs": "NP_001167551.1:p.Trp1462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS015653" }, { "coordinates": [ { "allele": "G", "end": 4631, "referenceAllele": "G", "start": 4630 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_023035.2:c.4395G=" ], "proteinEffect": { "hgvs": "NP_075461.2:p.Trp1465=" }, "referenceSequence": "http://reg.genome.network/refseq/RS037547" }, { "@id": "http://reg.genome.network/allele/PA3086623912", "coordinates": [ { "allele": "G", "end": 4650, "referenceAllele": "G", "start": 4649 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_000068.4:c.4395G=" ], "proteinEffect": { "hgvs": "NP_000059.3:p.Trp1465=" }, "referenceSequence": "http://reg.genome.network/refseq/RS674685" }, { "coordinates": [ { "allele": "G", "end": 4638, "referenceAllele": "G", "start": 4637 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127222.2:c.4383G=" ], "proteinEffect": { "hgvs": "NP_001120694.1:p.Trp1461=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676856", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360228.11:c.4383G=" }, "RefSeq": { "hgvs": "NM_001127222.2:c.4383G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353362.5:p.Trp1461=" }, "RefSeq": { "hgvs": "NP_001120694.1:p.Trp1461=" } } } }, { "coordinates": [ { "allele": "G", "end": 4641, "referenceAllele": "G", "start": 4640 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001174080.2:c.4386G=" ], "proteinEffect": { "hgvs": "NP_001167551.1:p.Trp1462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS678846" }, { "coordinates": [ { "allele": "G", "end": 4650, "referenceAllele": "G", "start": 4649 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_023035.3:c.4395G=" ], "proteinEffect": { "hgvs": "NP_075461.2:p.Trp1465=" }, "referenceSequence": "http://reg.genome.network/refseq/RS698619" }, { "coordinates": [ { "allele": "G", "end": 4641, "referenceAllele": "G", "start": 4640 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127221.2:c.4386G=" ], "proteinEffect": { "hgvs": "NP_001120693.1:p.Trp1462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS712197" } ], "type": "nucleotide" }