{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7275688", "communityStandardTitle": [ "NM_001040108.2(MLH3):c.2531C>T (p.Pro844Leu)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM3754113" }, { "active": false, "id": "COSM3754114" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=255064[alleleid]", "alleleId": 255064, "preferredName": "NM_001040108.2(MLH3):c.2531C>T (p.Pro844Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/257252", "RCV": [ "RCV000253289", "RCV000385582", "RCV001711553" ], "variationId": 257252 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-75513828-G-A", "id": "14-75513828-G-A", "variant": "14:75513828 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.75513828G>A?assembly=hg19", "id": "chr14:g.75513828G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.75047125G>A?assembly=hg38", "id": "chr14:g.75047125G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/175080", "rs": 175080 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-75513828-G-A?dataset=gnomad_r2_1", "id": "14-75513828-G-A", "variant": "14:75513828 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-75047125-G-A?dataset=gnomad_r3", "id": "14-75047125-G-A", "variant": "14:75047125 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-75047125-G-A?dataset=gnomad_r4", "id": "14-75047125-G-A", "variant": "14:75047125 G / A" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 75047125, "referenceAllele": "G", "start": 75047124 } ], "hgvs": [ "NC_000014.9:g.75047125G>A", "CM000676.2:g.75047125G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 75513828, "referenceAllele": "G", "start": 75513827 } ], "hgvs": [ "NC_000014.8:g.75513828G>A", "CM000676.1:g.75513828G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 74583581, "referenceAllele": "G", "start": 74583580 } ], "hgvs": [ "NC_000014.7:g.74583581G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 9408, "referenceAllele": "C", "start": 9407 } ], "hgvs": [ "NG_008649.1:g.9408C>T", "LRG_217:g.9408C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001144" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2682, "referenceAllele": "C", "start": 2681 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "ENST00000355774.7:c.2531C>T" ], "proteinEffect": { "hgvs": "ENSP00000348020.2:p.Pro844Leu", "hgvsWellDefined": "ENSP00000348020.2:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS748719", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355774.7:c.2531C>T" }, "RefSeq": { "hgvs": "NM_001040108.2:c.2531C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348020.2:p.Pro844Leu" }, "RefSeq": { "hgvs": "NP_001035197.1:p.Pro844Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "C", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "ENST00000355774.6:c.2531C>T" ], "proteinEffect": { "hgvs": "ENSP00000348020.2:p.Pro844Leu", "hgvsWellDefined": "ENSP00000348020.2:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS263547" }, { "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "C", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "ENST00000380968.6:c.2531C>T" ], "proteinEffect": { "hgvs": "ENSP00000370355.3:p.Pro844Leu", "hgvsWellDefined": "ENSP00000370355.3:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS273165" }, { "coordinates": [ { "allele": "T", "end": 77, "referenceAllele": "C", "start": 76 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "ENST00000555671.1:n.77C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS371621" }, { "coordinates": [ { "allele": "T", "end": 2637, "referenceAllele": "C", "start": 2636 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "ENST00000556257.5:c.2531C>T" ], "proteinEffect": { "hgvs": "ENSP00000451540.1:p.Pro844Leu", "hgvsWellDefined": "ENSP00000451540.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS372079" }, { "coordinates": [ { "allele": "T", "end": 2567, "referenceAllele": "C", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "ENST00000556740.5:c.2531C>T" ], "proteinEffect": { "hgvs": "ENSP00000452316.1:p.Pro844Leu", "hgvsWellDefined": "ENSP00000452316.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS372452" }, { "@id": "http://reg.genome.network/allele/PA645406105", "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "C", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "NM_001040108.1:c.2531C>T", "LRG_217t1:c.2531C>T" ], "proteinEffect": { "hgvs": "NP_001035197.1:p.Pro844Leu", "hgvsWellDefined": "NP_001035197.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS009509" }, { "@id": "http://reg.genome.network/allele/PA916014646", "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "C", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "NM_014381.2:c.2531C>T" ], "proteinEffect": { "hgvs": "NP_055196.2:p.Pro844Leu", "hgvsWellDefined": "NP_055196.2:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS033132" }, { "coordinates": [ { "allele": "T", "end": 2937, "referenceAllele": "C", "start": 2936 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_005267531.3:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_005267588.1:p.Pro844Leu", "hgvsWellDefined": "XP_005267588.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065450" }, { "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "C", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_005267532.3:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_005267589.1:p.Pro844Leu", "hgvsWellDefined": "XP_005267589.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065451" }, { "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "C", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_005267533.3:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_005267590.1:p.Pro844Leu", "hgvsWellDefined": "XP_005267590.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065452" }, { "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "C", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_005267534.2:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_005267591.1:p.Pro844Leu", "hgvsWellDefined": "XP_005267591.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065453" }, { "coordinates": [ { "allele": "T", "end": 2623, "referenceAllele": "C", "start": 2622 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_006720116.2:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_006720179.1:p.Pro844Leu", "hgvsWellDefined": "XP_006720179.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS073507" }, { "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "C", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_011536646.1:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_011534948.1:p.Pro844Leu", "hgvsWellDefined": "XP_011534948.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS103631" }, { "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "C", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_011536647.1:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_011534949.1:p.Pro844Leu", "hgvsWellDefined": "XP_011534949.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS103632" }, { "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "C", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_011536648.1:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_011534950.1:p.Pro844Leu", "hgvsWellDefined": "XP_011534950.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS103633" }, { "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "C", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XR_245681.2:n.2747C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117016" }, { "coordinates": [ { "allele": "T", "end": 2694, "referenceAllele": "C", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_005267532.5:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_005267589.1:p.Pro844Leu", "hgvsWellDefined": "XP_005267589.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536432" }, { "coordinates": [ { "allele": "T", "end": 2694, "referenceAllele": "C", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_005267533.5:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_005267590.1:p.Pro844Leu", "hgvsWellDefined": "XP_005267590.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536433" }, { "coordinates": [ { "allele": "T", "end": 2694, "referenceAllele": "C", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_005267534.3:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_005267591.1:p.Pro844Leu", "hgvsWellDefined": "XP_005267591.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536434" }, { "coordinates": [ { "allele": "T", "end": 2623, "referenceAllele": "C", "start": 2622 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_006720116.4:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_006720179.1:p.Pro844Leu", "hgvsWellDefined": "XP_006720179.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS540025" }, { "coordinates": [ { "allele": "T", "end": 2694, "referenceAllele": "C", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_011536646.3:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_011534948.1:p.Pro844Leu", "hgvsWellDefined": "XP_011534948.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS552577" }, { "coordinates": [ { "allele": "T", "end": 2623, "referenceAllele": "C", "start": 2622 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_017021219.2:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_016876708.1:p.Pro844Leu", "hgvsWellDefined": "XP_016876708.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS572483" }, { "coordinates": [ { "allele": "T", "end": 2623, "referenceAllele": "C", "start": 2622 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XM_024449538.1:c.2531C>T" ], "proteinEffect": { "hgvs": "XP_024305306.1:p.Pro844Leu", "hgvsWellDefined": "XP_024305306.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS583087" }, { "coordinates": [ { "allele": "T", "end": 2694, "referenceAllele": "C", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XR_001750225.2:n.2694C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597670" }, { "coordinates": [ { "allele": "T", "end": 2694, "referenceAllele": "C", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XR_001750227.2:n.2694C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597671" }, { "coordinates": [ { "allele": "T", "end": 2694, "referenceAllele": "C", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XR_001750228.2:n.2694C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597672" }, { "coordinates": [ { "allele": "T", "end": 2694, "referenceAllele": "C", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XR_001750229.2:n.2694C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597673" }, { "coordinates": [ { "allele": "T", "end": 2694, "referenceAllele": "C", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XR_001750230.2:n.2694C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597674" }, { "coordinates": [ { "allele": "T", "end": 2694, "referenceAllele": "C", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XR_002957544.1:n.2694C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603678" }, { "coordinates": [ { "allele": "T", "end": 2694, "referenceAllele": "C", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "XR_245681.4:n.2694C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606188" }, { "@id": "http://reg.genome.network/allele/PA645406105", "coordinates": [ { "allele": "T", "end": 2682, "referenceAllele": "C", "start": 2681 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "NM_001040108.2:c.2531C>T" ], "proteinEffect": { "hgvs": "NP_001035197.1:p.Pro844Leu", "hgvsWellDefined": "NP_001035197.1:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS675957", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355774.7:c.2531C>T" }, "RefSeq": { "hgvs": "NM_001040108.2:c.2531C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348020.2:p.Pro844Leu" }, "RefSeq": { "hgvs": "NP_001035197.1:p.Pro844Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA916014646", "coordinates": [ { "allele": "T", "end": 2682, "referenceAllele": "C", "start": 2681 } ], "gene": "http://reg.genome.network/gene/GN007128", "geneNCBI_id": 27030, "geneSymbol": "MLH3", "hgvs": [ "NM_014381.3:c.2531C>T" ], "proteinEffect": { "hgvs": "NP_055196.2:p.Pro844Leu", "hgvsWellDefined": "NP_055196.2:p.Pro844Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS697245" } ], "type": "nucleotide" }