{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10259756", "communityStandardTitle": [ "NM_152513.4(MEI1):c.116T>G (p.Val39Gly)" ], "externalRecords": { "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/22-42095658-T-G", "id": "22-42095658-T-G", "variant": "22:42095658 T / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.42095658T>G?assembly=hg19", "id": "chr22:g.42095658T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.41699654T>G?assembly=hg38", "id": "chr22:g.41699654T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/147348682", "rs": 147348682 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-42095658-T-G?dataset=gnomad_r2_1", "id": "22-42095658-T-G", "variant": "22:42095658 T / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-41699654-T-G?dataset=gnomad_r3", "id": "22-41699654-T-G", "variant": "22:41699654 T / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-41699654-T-G?dataset=gnomad_r4", "id": "22-41699654-T-G", "variant": "22:41699654 T / G" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 41699654, "referenceAllele": "T", "start": 41699653 } ], "hgvs": [ "NC_000022.11:g.41699654T>G", "CM000684.2:g.41699654T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 42095658, "referenceAllele": "T", "start": 42095657 } ], "hgvs": [ "NC_000022.10:g.42095658T>G", "CM000684.1:g.42095658T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 40425604, "referenceAllele": "T", "start": 40425603 } ], "hgvs": [ "NC_000022.9:g.40425604T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 152, "referenceAllele": "T", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "ENST00000401548.8:c.116T>G" ], "proteinEffect": { "hgvs": "ENSP00000384115.3:p.Val39Gly", "hgvsWellDefined": "ENSP00000384115.3:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS753969", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000401548.8:c.116T>G" }, "RefSeq": { "hgvs": "NM_152513.4:c.116T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384115.3:p.Val39Gly" }, "RefSeq": { "hgvs": "NP_689726.3:p.Val39Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 156, "referenceAllele": "T", "start": 155 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "ENST00000401548.7:c.116T>G" ], "proteinEffect": { "hgvs": "ENSP00000384115.3:p.Val39Gly", "hgvsWellDefined": "ENSP00000384115.3:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS279265" }, { "coordinates": [ { "allele": "G", "end": 141, "referenceAllele": "T", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "ENST00000540833.1:c.-665T>G" ], "proteinEffect": { "hgvs": "ENSP00000444225.1:n.-665T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS362615" }, { "@id": "http://reg.genome.network/allele/PA3088592869", "coordinates": [ { "allele": "G", "end": 141, "referenceAllele": "T", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "NM_152513.3:c.116T>G" ], "proteinEffect": { "hgvs": "NP_689726.3:p.Val39Gly", "hgvsWellDefined": "NP_689726.3:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS041941" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529935.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528237.1:p.Val39Gly", "hgvsWellDefined": "XP_011528237.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS096994" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529936.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528238.1:p.Val39Gly", "hgvsWellDefined": "XP_011528238.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS096995" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529937.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528239.1:p.Val39Gly", "hgvsWellDefined": "XP_011528239.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS096996" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529938.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528240.1:p.Val39Gly", "hgvsWellDefined": "XP_011528240.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS096997" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529939.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528241.1:p.Val39Gly", "hgvsWellDefined": "XP_011528241.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS096998" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529940.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528242.1:p.Val39Gly", "hgvsWellDefined": "XP_011528242.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS096999" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529941.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528243.1:p.Val39Gly", "hgvsWellDefined": "XP_011528243.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097000" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529943.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528245.1:p.Val39Gly", "hgvsWellDefined": "XP_011528245.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097002" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529944.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528246.1:p.Val39Gly", "hgvsWellDefined": "XP_011528246.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097003" }, { "coordinates": [ { "allele": "G", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529945.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528247.1:p.Val39Gly", "hgvsWellDefined": "XP_011528247.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097004" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529946.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528248.1:p.Val39Gly", "hgvsWellDefined": "XP_011528248.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097005" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529947.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528249.1:p.Val39Gly", "hgvsWellDefined": "XP_011528249.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097006" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529950.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528252.1:p.Val39Gly", "hgvsWellDefined": "XP_011528252.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097009" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529951.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528253.1:p.Val39Gly", "hgvsWellDefined": "XP_011528253.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097010" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529953.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528255.1:p.Val39Gly", "hgvsWellDefined": "XP_011528255.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097012" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529955.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528257.1:p.Val39Gly", "hgvsWellDefined": "XP_011528257.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097014" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529956.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528258.1:p.Val39Gly", "hgvsWellDefined": "XP_011528258.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097015" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_937816.1:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132618" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_937817.1:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132619" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_937818.1:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132620" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_937819.1:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132621" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_937820.1:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132622" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_937821.1:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132623" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_937822.1:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132624" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529935.2:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528237.1:p.Val39Gly", "hgvsWellDefined": "XP_011528237.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549725" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529936.2:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528238.1:p.Val39Gly", "hgvsWellDefined": "XP_011528238.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549726" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529937.2:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528239.1:p.Val39Gly", "hgvsWellDefined": "XP_011528239.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549727" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529938.2:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528240.1:p.Val39Gly", "hgvsWellDefined": "XP_011528240.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549728" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529939.2:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528241.1:p.Val39Gly", "hgvsWellDefined": "XP_011528241.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549729" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529940.2:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528242.1:p.Val39Gly", "hgvsWellDefined": "XP_011528242.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549730" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529941.2:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528243.1:p.Val39Gly", "hgvsWellDefined": "XP_011528243.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549731" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529943.2:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528245.1:p.Val39Gly", "hgvsWellDefined": "XP_011528245.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549733" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529944.2:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528246.1:p.Val39Gly", "hgvsWellDefined": "XP_011528246.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549734" }, { "coordinates": [ { "allele": "G", "end": 152, "referenceAllele": "T", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529945.3:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528247.1:p.Val39Gly", "hgvsWellDefined": "XP_011528247.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549735" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529946.2:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528248.1:p.Val39Gly", "hgvsWellDefined": "XP_011528248.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549736" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529947.2:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528249.1:p.Val39Gly", "hgvsWellDefined": "XP_011528249.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549737" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_011529956.2:c.116T>G" ], "proteinEffect": { "hgvs": "XP_011528258.1:p.Val39Gly", "hgvsWellDefined": "XP_011528258.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549742" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_017028633.2:c.116T>G" ], "proteinEffect": { "hgvs": "XP_016884122.1:p.Val39Gly", "hgvsWellDefined": "XP_016884122.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS578328" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XM_024452164.1:c.116T>G" ], "proteinEffect": { "hgvs": "XP_024307932.1:p.Val39Gly", "hgvsWellDefined": "XP_024307932.1:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS585663" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_001755172.2:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601035" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_001755173.2:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601036" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_001755174.1:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601037" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_937816.2:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS611733" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_937817.2:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS611734" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_937818.2:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS611735" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_937821.2:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS611736" }, { "coordinates": [ { "allele": "G", "end": 150, "referenceAllele": "T", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "XR_937822.3:n.150T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS611737" }, { "@id": "http://reg.genome.network/allele/PA3088592869", "coordinates": [ { "allele": "G", "end": 152, "referenceAllele": "T", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN028613", "geneNCBI_id": 150365, "geneSymbol": "MEI1", "hgvs": [ "NM_152513.4:c.116T>G" ], "proteinEffect": { "hgvs": "NP_689726.3:p.Val39Gly", "hgvsWellDefined": "NP_689726.3:p.Val39Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS672359", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000401548.8:c.116T>G" }, "RefSeq": { "hgvs": "NM_152513.4:c.116T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384115.3:p.Val39Gly" }, "RefSeq": { "hgvs": "NP_689726.3:p.Val39Gly" } } } } ], "type": "nucleotide" }