{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA410999935", "communityStandardTitle": [ "NM_032608.7(MYO18B):c.131G>C (p.Gly44Ala)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.26159289G>C?assembly=hg19", "id": "chr22:g.26159289G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.25763322G>C?assembly=hg38", "id": "chr22:g.25763322G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/133885", "rs": 133885 } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 25763322, "referenceAllele": "G", "start": 25763321 } ], "hgvs": [ "NC_000022.11:g.25763322G>C", "CM000684.2:g.25763322G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 26159289, "referenceAllele": "G", "start": 26159288 } ], "hgvs": [ "NC_000022.10:g.26159289G>C", "CM000684.1:g.26159289G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 24489289, "referenceAllele": "G", "start": 24489288 } ], "hgvs": [ "NC_000022.9:g.24489289G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "C", "end": 26179, "referenceAllele": "G", "start": 26178 } ], "hgvs": [ "NG_046772.1:g.26179G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS616404" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 346, "referenceAllele": "G", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "ENST00000335473.12:c.131G>C" ], "proteinEffect": { "hgvs": "ENSP00000334563.8:p.Gly44Ala", "hgvsWellDefined": "ENSP00000334563.8:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS747501", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000335473.12:c.131G>C" }, "RefSeq": { "hgvs": "NM_032608.7:c.131G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000334563.8:p.Gly44Ala" }, "RefSeq": { "hgvs": "NP_115997.5:p.Gly44Ala" } } } }, { "coordinates": [ { "allele": "C", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "ENST00000335473.11:c.131G>C" ], "proteinEffect": { "hgvs": "ENSP00000334563.7:p.Gly44Ala", "hgvsWellDefined": "ENSP00000334563.7:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS260126" }, { "coordinates": [ { "allele": "C", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "ENST00000407587.6:c.131G>C" ], "proteinEffect": { "hgvs": "ENSP00000386096.2:p.Gly44Ala", "hgvsWellDefined": "ENSP00000386096.2:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS280953" }, { "coordinates": [ { "allele": "C", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "ENST00000536101.5:c.131G>C" ], "proteinEffect": { "hgvs": "ENSP00000441229.1:p.Gly44Ala", "hgvsWellDefined": "ENSP00000441229.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS360089" }, { "coordinates": [ { "allele": "C", "end": 190, "referenceAllele": "G", "start": 189 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "ENST00000539302.5:c.131G>C" ], "proteinEffect": { "hgvs": "ENSP00000437587.1:p.Gly44Ala", "hgvsWellDefined": "ENSP00000437587.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS361791" }, { "@id": "http://reg.genome.network/allele/PA3088572608", "coordinates": [ { "allele": "C", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "NM_032608.5:c.131G>C" ], "proteinEffect": { "hgvs": "NP_115997.5:p.Gly44Ala", "hgvsWellDefined": "NP_115997.5:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS039219" }, { "coordinates": [ { "allele": "C", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_005261786.3:c.131G>C" ], "proteinEffect": { "hgvs": "XP_005261843.1:p.Gly44Ala", "hgvsWellDefined": "XP_005261843.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS063223" }, { "coordinates": [ { "allele": "C", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530458.1:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528760.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528760.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS097514" }, { "coordinates": [ { "allele": "C", "end": 316, "referenceAllele": "G", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530459.1:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528761.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528761.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS097515" }, { "coordinates": [ { "allele": "C", "end": 207, "referenceAllele": "G", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530460.1:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528762.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528762.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS097516" }, { "coordinates": [ { "allele": "C", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530461.1:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528763.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528763.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS097517" }, { "coordinates": [ { "allele": "C", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530462.1:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528764.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528764.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS097518" }, { "coordinates": [ { "allele": "C", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530463.1:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528765.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528765.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS097519" }, { "coordinates": [ { "allele": "C", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530464.1:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528766.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528766.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS097520" }, { "coordinates": [ { "allele": "C", "end": 170, "referenceAllele": "G", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530465.1:c.-353G>C" ], "proteinEffect": { "hgvs": "XP_011528767.1:n.-353G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS097521" }, { "coordinates": [ { "allele": "C", "end": 384, "referenceAllele": "G", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530466.1:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528768.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528768.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS097522" }, { "coordinates": [ { "allele": "C", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530467.1:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528769.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528769.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS097523" }, { "coordinates": [ { "allele": "C", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "NM_001318245.1:c.131G>C" ], "proteinEffect": { "hgvs": "NP_001305174.1:p.Gly44Ala", "hgvsWellDefined": "NP_001305174.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS512822" }, { "@id": "http://reg.genome.network/allele/PA3088572608", "coordinates": [ { "allele": "C", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "NM_032608.6:c.131G>C" ], "proteinEffect": { "hgvs": "NP_115997.5:p.Gly44Ala", "hgvsWellDefined": "NP_115997.5:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS526348" }, { "coordinates": [ { "allele": "C", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530458.2:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528760.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528760.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS549992" }, { "coordinates": [ { "allele": "C", "end": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530459.2:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528761.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528761.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS549993" }, { "coordinates": [ { "allele": "C", "end": 244, "referenceAllele": "G", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530460.2:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528762.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528762.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS549994" }, { "coordinates": [ { "allele": "C", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530461.2:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528763.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528763.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS549995" }, { "coordinates": [ { "allele": "C", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530464.2:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528766.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528766.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS549996" }, { "coordinates": [ { "allele": "C", "end": 157, "referenceAllele": "G", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530465.2:c.-353G>C" ], "proteinEffect": { "hgvs": "XP_011528767.1:n.-353G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS549997" }, { "coordinates": [ { "allele": "C", "end": 401, "referenceAllele": "G", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_011530466.2:c.131G>C" ], "proteinEffect": { "hgvs": "XP_011528768.1:p.Gly44Ala", "hgvsWellDefined": "XP_011528768.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS549998" }, { "coordinates": [ { "allele": "C", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_017029012.1:c.131G>C" ], "proteinEffect": { "hgvs": "XP_016884501.1:p.Gly44Ala", "hgvsWellDefined": "XP_016884501.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS578634" }, { "coordinates": [ { "allele": "C", "end": 448, "referenceAllele": "G", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_017029013.1:c.131G>C" ], "proteinEffect": { "hgvs": "XP_016884502.1:p.Gly44Ala", "hgvsWellDefined": "XP_016884502.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS578635" }, { "coordinates": [ { "allele": "C", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_017029014.1:c.131G>C" ], "proteinEffect": { "hgvs": "XP_016884503.1:p.Gly44Ala", "hgvsWellDefined": "XP_016884503.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS578636" }, { "coordinates": [ { "allele": "C", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_017029015.1:c.131G>C" ], "proteinEffect": { "hgvs": "XP_016884504.1:p.Gly44Ala", "hgvsWellDefined": "XP_016884504.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS578637" }, { "coordinates": [ { "allele": "C", "end": 399, "referenceAllele": "G", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "XM_017029017.1:c.-2263G>C" ], "proteinEffect": { "hgvs": "XP_016884506.1:n.-2263G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS578639" }, { "coordinates": [ { "allele": "C", "end": 346, "referenceAllele": "G", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "NM_001318245.2:c.131G>C" ], "proteinEffect": { "hgvs": "NP_001305174.1:p.Gly44Ala", "hgvsWellDefined": "NP_001305174.1:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS684482" }, { "@id": "http://reg.genome.network/allele/PA3088572608", "coordinates": [ { "allele": "C", "end": 346, "referenceAllele": "G", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN018150", "geneNCBI_id": 84700, "geneSymbol": "MYO18B", "hgvs": [ "NM_032608.7:c.131G>C" ], "proteinEffect": { "hgvs": "NP_115997.5:p.Gly44Ala", "hgvsWellDefined": "NP_115997.5:p.Gly44Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS699156", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000335473.12:c.131G>C" }, "RefSeq": { "hgvs": "NM_032608.7:c.131G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000334563.8:p.Gly44Ala" }, "RefSeq": { "hgvs": "NP_115997.5:p.Gly44Ala" } } } } ], "type": "nucleotide" }