{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA009110", "communityStandardTitle": [ "NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45210[alleleid]", "alleleId": 45210, "preferredName": "NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36548", "RCV": [ "RCV000030221", "RCV000160545", "RCV000411992", "RCV000524281", "RCV000573289", "RCV000767194" ], "variationId": 36548 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-37092086-G-A", "id": "3-37092086-G-A", "variant": "3:37092086 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37092086G>A?assembly=hg19", "id": "chr3:g.37092086G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37050595G>A?assembly=hg38", "id": "chr3:g.37050595G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/148317871", "rs": 148317871 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-37092086-G-A?dataset=gnomad_r2_1", "id": "3-37092086-G-A", "variant": "3:37092086 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-37050595-G-A?dataset=gnomad_r3", "id": "3-37050595-G-A", "variant": "3:37050595 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-37050595-G-A?dataset=gnomad_r4", "id": "3-37050595-G-A", "variant": "3:37050595 G / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 37050595, "referenceAllele": "G", "start": 37050594 } ], "hgvs": [ "NC_000003.12:g.37050595G>A", "CM000665.2:g.37050595G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 37092086, "referenceAllele": "G", "start": 37092085 } ], "hgvs": [ "NC_000003.11:g.37092086G>A", "CM000665.1:g.37092086G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 37067090, "referenceAllele": "G", "start": 37067089 } ], "hgvs": [ "NC_000003.10:g.37067090G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 62246, "referenceAllele": "G", "start": 62245 } ], "hgvs": [ "NG_007109.2:g.62246G>A", "LRG_216:g.62246G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000485" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1968, "referenceAllele": "G", "start": 1967 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413740.2:c.1777G>A" ], "proteinEffect": { "hgvs": "ENSP00000416476.2:p.Glu593Lys", "hgvsWellDefined": "ENSP00000416476.2:p.Glu593Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914028" }, { "coordinates": [ { "allele": "A", "end": 2231, "referenceAllele": "G", "start": 2230 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000429117.6:c.1919G>A" ], "proteinEffect": { "hgvs": "ENSP00000407019.2:p.Gly640Glu", "hgvsWellDefined": "ENSP00000407019.2:p.Gly640Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914050" }, { "coordinates": [ { "allele": "A", "end": 2036, "referenceAllele": "G", "start": 2035 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000456676.7:c.2006G>A" ], "proteinEffect": { "hgvs": "ENSP00000416687.3:p.Gly669Glu", "hgvsWellDefined": "ENSP00000416687.3:p.Gly669Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914097" }, { "coordinates": [ { "allele": "A", "end": 2271, "referenceAllele": "G", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000492474.6:c.1490G>A" ], "proteinEffect": { "hgvs": "ENSP00000518393.1:p.Gly497Glu", "hgvsWellDefined": "ENSP00000518393.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914167" }, { "coordinates": [ { "allele": "A", "end": 2196, "referenceAllele": "G", "start": 2195 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000616768.6:c.2120G>A" ], "proteinEffect": { "hgvs": "ENSP00000480669.3:p.Gly707Glu", "hgvsWellDefined": "ENSP00000480669.3:p.Gly707Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914365" }, { "coordinates": [ { "allele": "A", "end": 2370, "referenceAllele": "G", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673673.2:c.2048G>A" ], "proteinEffect": { "hgvs": "ENSP00000500979.2:p.Gly683Glu", "hgvsWellDefined": "ENSP00000500979.2:p.Gly683Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914447" }, { "coordinates": [ { "allele": "A", "end": 2243, "referenceAllele": "G", "start": 2242 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.8:c.2213G>A" ], "proteinEffect": { "hgvs": "ENSP00000231790.3:p.Gly738Glu", "hgvsWellDefined": "ENSP00000231790.3:p.Gly738Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS740875", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.2213G>A" }, "RefSeq": { "hgvs": "NM_000249.4:c.2213G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Gly738Glu" }, "RefSeq": { "hgvs": "NP_000240.1:p.Gly738Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 1955, "referenceAllele": "G", "start": 1954 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413212.2:c.*1131G>A" ], "proteinEffect": { "hgvs": "ENSP00000400844.2:n.*1131G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS754523" }, { "coordinates": [ { "allele": "A", "end": 2216, "referenceAllele": "G", "start": 2215 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000432299.6:c.*2045G>A" ], "proteinEffect": { "hgvs": "ENSP00000416783.1:n.*2045G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS755407" }, { "coordinates": [ { "allele": "A", "end": 2035, "referenceAllele": "G", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000447829.6:c.*1324G>A" ], "proteinEffect": { "hgvs": "ENSP00000399329.2:n.*1324G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS756143" }, { "coordinates": [ { "allele": "A", "end": 2092, "referenceAllele": "G", "start": 2091 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000539477.6:c.1490G>A" ], "proteinEffect": { "hgvs": "ENSP00000443665.1:p.Gly497Glu", "hgvsWellDefined": "ENSP00000443665.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS759598" }, { "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "G", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000616768.5:c.1157G>A" ], "proteinEffect": { "hgvs": "ENSP00000480669.2:p.Gly386Glu", "hgvsWellDefined": "ENSP00000480669.2:p.Gly386Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS762077" }, { "coordinates": [ { "allele": "A", "end": 2001, "referenceAllele": "G", "start": 2000 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673673.1:c.2001G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773774" }, { "coordinates": [ { "allele": "A", "end": 1247, "referenceAllele": "G", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673741.1:n.1247G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773833" }, { "coordinates": [ { "allele": "A", "end": 1595, "referenceAllele": "G", "start": 1594 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673889.1:n.1595G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773946" }, { "coordinates": [ { "allele": "A", "end": 2139, "referenceAllele": "G", "start": 2138 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673897.1:c.*2005G>A" ], "proteinEffect": { "hgvs": "ENSP00000501109.1:n.*2005G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773953" }, { "coordinates": [ { "allele": "A", "end": 1540, "referenceAllele": "G", "start": 1539 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673899.1:c.1481G>A" ], "proteinEffect": { "hgvs": "ENSP00000501030.1:p.Gly494Glu", "hgvsWellDefined": "ENSP00000501030.1:p.Gly494Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773955" }, { "coordinates": [ { "allele": "A", "end": 2479, "referenceAllele": "G", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673947.1:c.*2353G>A" ], "proteinEffect": { "hgvs": "ENSP00000501304.1:n.*2353G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773999" }, { "coordinates": [ { "allele": "A", "end": 2241, "referenceAllele": "G", "start": 2240 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673972.1:c.*2091G>A" ], "proteinEffect": { "hgvs": "ENSP00000501281.1:n.*2091G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774014" }, { "coordinates": [ { "allele": "A", "end": 2348, "referenceAllele": "G", "start": 2347 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674019.1:c.1490G>A" ], "proteinEffect": { "hgvs": "ENSP00000501081.1:p.Gly497Glu", "hgvsWellDefined": "ENSP00000501081.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS774050" }, { "coordinates": [ { "allele": "A", "end": 2202, "referenceAllele": "G", "start": 2201 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674111.1:c.*442G>A" ], "proteinEffect": { "hgvs": "ENSP00000501162.1:n.*442G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774130" }, { "coordinates": [ { "allele": "A", "end": 924, "referenceAllele": "G", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674125.1:n.924G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774144" }, { "coordinates": [ { "allele": "A", "end": 2429, "referenceAllele": "G", "start": 2428 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.6:c.2213G>A" ], "proteinEffect": { "hgvs": "ENSP00000231790.2:p.Gly738Glu", "hgvsWellDefined": "ENSP00000231790.2:p.Gly738Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS246728" }, { "coordinates": [ { "allele": "A", "end": 2179, "referenceAllele": "G", "start": 2178 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000435176.5:c.1919G>A" ], "proteinEffect": { "hgvs": "ENSP00000402564.1:p.Gly640Glu", "hgvsWellDefined": "ENSP00000402564.1:p.Gly640Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247390" }, { "coordinates": [ { "allele": "A", "end": 2185, "referenceAllele": "G", "start": 2184 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000455445.6:c.1490G>A" ], "proteinEffect": { "hgvs": "ENSP00000398272.2:p.Gly497Glu", "hgvsWellDefined": "ENSP00000398272.2:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247178" }, { "coordinates": [ { "allele": "A", "end": 1981, "referenceAllele": "G", "start": 1980 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000456676.6:c.1981G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS247416" }, { "coordinates": [ { "allele": "A", "end": 2357, "referenceAllele": "G", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458205.6:c.1490G>A" ], "proteinEffect": { "hgvs": "ENSP00000402667.2:p.Gly497Glu", "hgvsWellDefined": "ENSP00000402667.2:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247365" }, { "coordinates": [ { "allele": "A", "end": 2320, "referenceAllele": "G", "start": 2319 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000536378.5:c.1490G>A" ], "proteinEffect": { "hgvs": "ENSP00000444286.2:p.Gly497Glu", "hgvsWellDefined": "ENSP00000444286.2:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247118" }, { "coordinates": [ { "allele": "A", "end": 2119, "referenceAllele": "G", "start": 2118 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000539477.5:c.1490G>A" ], "proteinEffect": { "hgvs": "ENSP00000443665.1:p.Gly497Glu", "hgvsWellDefined": "ENSP00000443665.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247348" }, { "@id": "http://reg.genome.network/allele/PA260477", "coordinates": [ { "allele": "A", "end": 2411, "referenceAllele": "G", "start": 2410 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.3:c.2213G>A", "LRG_216t1:c.2213G>A" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Gly738Glu", "hgvsWellDefined": "NP_000240.1:p.Gly738Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006311" }, { "@id": "http://reg.genome.network/allele/PA2826039638", "coordinates": [ { "allele": "A", "end": 2206, "referenceAllele": "G", "start": 2205 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.1:c.1919G>A" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Gly640Glu", "hgvsWellDefined": "NP_001161089.1:p.Gly640Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS014972" }, { "@id": "http://reg.genome.network/allele/PA2826041480", "coordinates": [ { "allele": "A", "end": 2206, "referenceAllele": "G", "start": 2205 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.1:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Gly497Glu", "hgvsWellDefined": "NP_001161090.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS014973" }, { "@id": "http://reg.genome.network/allele/PA2826043322", "coordinates": [ { "allele": "A", "end": 2119, "referenceAllele": "G", "start": 2118 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.1:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Gly497Glu", "hgvsWellDefined": "NP_001161091.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS014974" }, { "@id": "http://reg.genome.network/allele/PA2826458835", "coordinates": [ { "allele": "A", "end": 2204, "referenceAllele": "G", "start": 2203 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.1:c.2006G>A" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Gly669Glu", "hgvsWellDefined": "NP_001245200.1:p.Gly669Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS019757" }, { "@id": "http://reg.genome.network/allele/PA2826460696", "coordinates": [ { "allele": "A", "end": 2320, "referenceAllele": "G", "start": 2319 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.1:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001245202.1:p.Gly497Glu", "hgvsWellDefined": "NP_001245202.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS019759" }, { "@id": "http://reg.genome.network/allele/PA2826462537", "coordinates": [ { "allele": "A", "end": 2356, "referenceAllele": "G", "start": 2355 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.1:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Gly497Glu", "hgvsWellDefined": "NP_001245203.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS019760" }, { "coordinates": [ { "allele": "A", "end": 2094, "referenceAllele": "G", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.1:c.2006G>A" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Gly669Glu", "hgvsWellDefined": "XP_005265218.1:p.Gly669Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS064527" }, { "coordinates": [ { "allele": "A", "end": 2211, "referenceAllele": "G", "start": 2210 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265163.1:c.1490G>A" ], "proteinEffect": { "hgvs": "XP_005265220.1:p.Gly497Glu", "hgvsWellDefined": "XP_005265220.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS064528" }, { "coordinates": [ { "allele": "A", "end": 2264, "referenceAllele": "G", "start": 2263 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265164.1:c.1490G>A" ], "proteinEffect": { "hgvs": "XP_005265221.1:p.Gly497Glu", "hgvsWellDefined": "XP_005265221.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS064529" }, { "coordinates": [ { "allele": "A", "end": 2125, "referenceAllele": "G", "start": 2124 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265166.1:c.1190G>A" ], "proteinEffect": { "hgvs": "XP_005265223.1:p.Gly397Glu", "hgvsWellDefined": "XP_005265223.1:p.Gly397Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS064530" }, { "coordinates": [ { "allele": "A", "end": 1971, "referenceAllele": "G", "start": 1970 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_011533727.1:c.1139G>A" ], "proteinEffect": { "hgvs": "XP_011532029.1:p.Gly380Glu", "hgvsWellDefined": "XP_011532029.1:p.Gly380Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS100748" }, { "@id": "http://reg.genome.network/allele/PA2826039638", "coordinates": [ { "allele": "A", "end": 2633, "referenceAllele": "G", "start": 2632 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.2:c.1919G>A" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Gly640Glu", "hgvsWellDefined": "NP_001161089.1:p.Gly640Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511683" }, { "@id": "http://reg.genome.network/allele/PA2826041480", "coordinates": [ { "allele": "A", "end": 2633, "referenceAllele": "G", "start": 2632 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.2:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Gly497Glu", "hgvsWellDefined": "NP_001161090.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511684" }, { "@id": "http://reg.genome.network/allele/PA2826043322", "coordinates": [ { "allele": "A", "end": 2546, "referenceAllele": "G", "start": 2545 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.2:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Gly497Glu", "hgvsWellDefined": "NP_001161091.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511685" }, { "@id": "http://reg.genome.network/allele/PA2826462537", "coordinates": [ { "allele": "A", "end": 2783, "referenceAllele": "G", "start": 2782 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.2:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Gly497Glu", "hgvsWellDefined": "NP_001245203.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511992" }, { "@id": "http://reg.genome.network/allele/PA2827886702", "coordinates": [ { "allele": "A", "end": 2314, "referenceAllele": "G", "start": 2313 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.1:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001341544.1:p.Gly497Glu", "hgvsWellDefined": "NP_001341544.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522556" }, { "@id": "http://reg.genome.network/allele/PA2827888546", "coordinates": [ { "allele": "A", "end": 2314, "referenceAllele": "G", "start": 2313 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.1:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001341545.1:p.Gly497Glu", "hgvsWellDefined": "NP_001341545.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522557" }, { "@id": "http://reg.genome.network/allele/PA2827890389", "coordinates": [ { "allele": "A", "end": 2406, "referenceAllele": "G", "start": 2405 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.1:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001341546.1:p.Gly497Glu", "hgvsWellDefined": "NP_001341546.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522558" }, { "@id": "http://reg.genome.network/allele/PA2827892231", "coordinates": [ { "allele": "A", "end": 2638, "referenceAllele": "G", "start": 2637 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.1:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001341547.1:p.Gly497Glu", "hgvsWellDefined": "NP_001341547.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522559" }, { "@id": "http://reg.genome.network/allele/PA2827893839", "coordinates": [ { "allele": "A", "end": 2762, "referenceAllele": "G", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.1:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001341548.1:p.Gly497Glu", "hgvsWellDefined": "NP_001341548.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522560" }, { "@id": "http://reg.genome.network/allele/PA2827896005", "coordinates": [ { "allele": "A", "end": 2401, "referenceAllele": "G", "start": 2400 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.1:c.1919G>A" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Gly640Glu", "hgvsWellDefined": "NP_001341549.1:p.Gly640Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522561" }, { "@id": "http://reg.genome.network/allele/PA2827897473", "coordinates": [ { "allele": "A", "end": 2431, "referenceAllele": "G", "start": 2430 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.1:c.1190G>A" ], "proteinEffect": { "hgvs": "NP_001341550.1:p.Gly397Glu", "hgvsWellDefined": "NP_001341550.1:p.Gly397Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522562" }, { "@id": "http://reg.genome.network/allele/PA2827898943", "coordinates": [ { "allele": "A", "end": 2544, "referenceAllele": "G", "start": 2543 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.1:c.1190G>A" ], "proteinEffect": { "hgvs": "NP_001341551.1:p.Gly397Glu", "hgvsWellDefined": "NP_001341551.1:p.Gly397Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522563" }, { "@id": "http://reg.genome.network/allele/PA2827900226", "coordinates": [ { "allele": "A", "end": 2453, "referenceAllele": "G", "start": 2452 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.1:c.1190G>A" ], "proteinEffect": { "hgvs": "NP_001341552.1:p.Gly397Glu", "hgvsWellDefined": "NP_001341552.1:p.Gly397Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522564" }, { "@id": "http://reg.genome.network/allele/PA2827901637", "coordinates": [ { "allele": "A", "end": 2163, "referenceAllele": "G", "start": 2162 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.1:c.1139G>A" ], "proteinEffect": { "hgvs": "NP_001341553.1:p.Gly380Glu", "hgvsWellDefined": "NP_001341553.1:p.Gly380Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522565" }, { "@id": "http://reg.genome.network/allele/PA2827903048", "coordinates": [ { "allele": "A", "end": 2061, "referenceAllele": "G", "start": 2060 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.1:c.1139G>A" ], "proteinEffect": { "hgvs": "NP_001341554.1:p.Gly380Glu", "hgvsWellDefined": "NP_001341554.1:p.Gly380Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522566" }, { "@id": "http://reg.genome.network/allele/PA2827904460", "coordinates": [ { "allele": "A", "end": 2158, "referenceAllele": "G", "start": 2157 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.1:c.1139G>A" ], "proteinEffect": { "hgvs": "NP_001341555.1:p.Gly380Glu", "hgvsWellDefined": "NP_001341555.1:p.Gly380Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522567" }, { "@id": "http://reg.genome.network/allele/PA2827905533", "coordinates": [ { "allele": "A", "end": 2390, "referenceAllele": "G", "start": 2389 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.1:c.1139G>A" ], "proteinEffect": { "hgvs": "NP_001341556.1:p.Gly380Glu", "hgvsWellDefined": "NP_001341556.1:p.Gly380Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522568" }, { "@id": "http://reg.genome.network/allele/PA2827908331", "coordinates": [ { "allele": "A", "end": 2318, "referenceAllele": "G", "start": 2317 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.1:c.2120G>A" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Gly707Glu", "hgvsWellDefined": "NP_001341557.1:p.Gly707Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522569" }, { "@id": "http://reg.genome.network/allele/PA2827910930", "coordinates": [ { "allele": "A", "end": 2312, "referenceAllele": "G", "start": 2311 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.1:c.2114G>A" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Gly705Glu", "hgvsWellDefined": "NP_001341558.1:p.Gly705Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522570" }, { "@id": "http://reg.genome.network/allele/PA2827912611", "coordinates": [ { "allele": "A", "end": 2246, "referenceAllele": "G", "start": 2245 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.1:c.2048G>A" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Gly683Glu", "hgvsWellDefined": "NP_001341559.1:p.Gly683Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522571" }, { "coordinates": [ { "allele": "A", "end": 2067, "referenceAllele": "G", "start": 2066 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.2:c.2006G>A" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Gly669Glu", "hgvsWellDefined": "XP_005265218.1:p.Gly669Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536007" }, { "coordinates": [ { "allele": "A", "end": 2043, "referenceAllele": "G", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_017006450.2:c.1190G>A" ], "proteinEffect": { "hgvs": "XP_016861939.1:p.Gly397Glu", "hgvsWellDefined": "XP_016861939.1:p.Gly397Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS561484" }, { "@id": "http://reg.genome.network/allele/PA260477", "coordinates": [ { "allele": "A", "end": 2243, "referenceAllele": "G", "start": 2242 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.4:c.2213G>A" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Gly738Glu", "hgvsWellDefined": "NP_000240.1:p.Gly738Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS674761", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.2213G>A" }, "RefSeq": { "hgvs": "NM_000249.4:c.2213G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Gly738Glu" }, "RefSeq": { "hgvs": "NP_000240.1:p.Gly738Glu" } } } }, { "@id": "http://reg.genome.network/allele/PA2826039638", "coordinates": [ { "allele": "A", "end": 2465, "referenceAllele": "G", "start": 2464 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.3:c.1919G>A" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Gly640Glu", "hgvsWellDefined": "NP_001161089.1:p.Gly640Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS713242" }, { "@id": "http://reg.genome.network/allele/PA2826041480", "coordinates": [ { "allele": "A", "end": 2465, "referenceAllele": "G", "start": 2464 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.3:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Gly497Glu", "hgvsWellDefined": "NP_001161090.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS713243" }, { "@id": "http://reg.genome.network/allele/PA2826043322", "coordinates": [ { "allele": "A", "end": 2378, "referenceAllele": "G", "start": 2377 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.3:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Gly497Glu", "hgvsWellDefined": "NP_001161091.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS713244" }, { "@id": "http://reg.genome.network/allele/PA2826458835", "coordinates": [ { "allele": "A", "end": 2036, "referenceAllele": "G", "start": 2035 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.2:c.2006G>A" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Gly669Glu", "hgvsWellDefined": "NP_001245200.1:p.Gly669Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS714924" }, { "@id": "http://reg.genome.network/allele/PA2826460696", "coordinates": [ { "allele": "A", "end": 2152, "referenceAllele": "G", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.2:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001245202.1:p.Gly497Glu", "hgvsWellDefined": "NP_001245202.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS714925" }, { "@id": "http://reg.genome.network/allele/PA2826462537", "coordinates": [ { "allele": "A", "end": 2615, "referenceAllele": "G", "start": 2614 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.3:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Gly497Glu", "hgvsWellDefined": "NP_001245203.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS714926" }, { "@id": "http://reg.genome.network/allele/PA2827886702", "coordinates": [ { "allele": "A", "end": 2146, "referenceAllele": "G", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.2:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001341544.1:p.Gly497Glu", "hgvsWellDefined": "NP_001341544.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720517" }, { "@id": "http://reg.genome.network/allele/PA2827888546", "coordinates": [ { "allele": "A", "end": 2146, "referenceAllele": "G", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.2:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001341545.1:p.Gly497Glu", "hgvsWellDefined": "NP_001341545.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720518" }, { "@id": "http://reg.genome.network/allele/PA2827890389", "coordinates": [ { "allele": "A", "end": 2238, "referenceAllele": "G", "start": 2237 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.2:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001341546.1:p.Gly497Glu", "hgvsWellDefined": "NP_001341546.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720519" }, { "@id": "http://reg.genome.network/allele/PA2827892231", "coordinates": [ { "allele": "A", "end": 2470, "referenceAllele": "G", "start": 2469 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.2:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001341547.1:p.Gly497Glu", "hgvsWellDefined": "NP_001341547.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720520" }, { "@id": "http://reg.genome.network/allele/PA2827893839", "coordinates": [ { "allele": "A", "end": 2594, "referenceAllele": "G", "start": 2593 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.2:c.1490G>A" ], "proteinEffect": { "hgvs": "NP_001341548.1:p.Gly497Glu", "hgvsWellDefined": "NP_001341548.1:p.Gly497Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720521" }, { "@id": "http://reg.genome.network/allele/PA2827896005", "coordinates": [ { "allele": "A", "end": 2233, "referenceAllele": "G", "start": 2232 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.2:c.1919G>A" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Gly640Glu", "hgvsWellDefined": "NP_001341549.1:p.Gly640Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720522" }, { "@id": "http://reg.genome.network/allele/PA2827897473", "coordinates": [ { "allele": "A", "end": 2263, "referenceAllele": "G", "start": 2262 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.2:c.1190G>A" ], "proteinEffect": { "hgvs": "NP_001341550.1:p.Gly397Glu", "hgvsWellDefined": "NP_001341550.1:p.Gly397Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720523" }, { "@id": "http://reg.genome.network/allele/PA2827898943", "coordinates": [ { "allele": "A", "end": 2376, "referenceAllele": "G", "start": 2375 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.2:c.1190G>A" ], "proteinEffect": { "hgvs": "NP_001341551.1:p.Gly397Glu", "hgvsWellDefined": "NP_001341551.1:p.Gly397Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720524" }, { "@id": "http://reg.genome.network/allele/PA2827900226", "coordinates": [ { "allele": "A", "end": 2285, "referenceAllele": "G", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.2:c.1190G>A" ], "proteinEffect": { "hgvs": "NP_001341552.1:p.Gly397Glu", "hgvsWellDefined": "NP_001341552.1:p.Gly397Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720525" }, { "@id": "http://reg.genome.network/allele/PA2827901637", "coordinates": [ { "allele": "A", "end": 1995, "referenceAllele": "G", "start": 1994 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.2:c.1139G>A" ], "proteinEffect": { "hgvs": "NP_001341553.1:p.Gly380Glu", "hgvsWellDefined": "NP_001341553.1:p.Gly380Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720526" }, { "@id": "http://reg.genome.network/allele/PA2827903048", "coordinates": [ { "allele": "A", "end": 1893, "referenceAllele": "G", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.2:c.1139G>A" ], "proteinEffect": { "hgvs": "NP_001341554.1:p.Gly380Glu", "hgvsWellDefined": "NP_001341554.1:p.Gly380Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720527" }, { "@id": "http://reg.genome.network/allele/PA2827904460", "coordinates": [ { "allele": "A", "end": 1990, "referenceAllele": "G", "start": 1989 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.2:c.1139G>A" ], "proteinEffect": { "hgvs": "NP_001341555.1:p.Gly380Glu", "hgvsWellDefined": "NP_001341555.1:p.Gly380Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720528" }, { "@id": "http://reg.genome.network/allele/PA2827905533", "coordinates": [ { "allele": "A", "end": 2222, "referenceAllele": "G", "start": 2221 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.2:c.1139G>A" ], "proteinEffect": { "hgvs": "NP_001341556.1:p.Gly380Glu", "hgvsWellDefined": "NP_001341556.1:p.Gly380Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720529" }, { "@id": "http://reg.genome.network/allele/PA2827908331", "coordinates": [ { "allele": "A", "end": 2150, "referenceAllele": "G", "start": 2149 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.2:c.2120G>A" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Gly707Glu", "hgvsWellDefined": "NP_001341557.1:p.Gly707Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720530" }, { "@id": "http://reg.genome.network/allele/PA2827910930", "coordinates": [ { "allele": "A", "end": 2144, "referenceAllele": "G", "start": 2143 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.2:c.2114G>A" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Gly705Glu", "hgvsWellDefined": "NP_001341558.1:p.Gly705Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720531" }, { "@id": "http://reg.genome.network/allele/PA2827912611", "coordinates": [ { "allele": "A", "end": 2078, "referenceAllele": "G", "start": 2077 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.2:c.2048G>A" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Gly683Glu", "hgvsWellDefined": "NP_001341559.1:p.Gly683Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720532" } ], "type": "nucleotide" }