{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA368874947", "communityStandardTitle": [ "NM_002291.3(LAMB1):c.1538A>C (p.Asp513Ala)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.107613461T>G?assembly=hg19", "id": "chr7:g.107613461T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.107973016T>G?assembly=hg38", "id": "chr7:g.107973016T>G" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 107973016, "referenceAllele": "T", "start": 107973015 } ], "hgvs": [ "NC_000007.14:g.107973016T>G", "CM000669.2:g.107973016T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 107613461, "referenceAllele": "T", "start": 107613460 } ], "hgvs": [ "NC_000007.13:g.107613461T>G", "CM000669.1:g.107613461T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 107400697, "referenceAllele": "T", "start": 107400696 } ], "hgvs": [ "NC_000007.12:g.107400697T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "C", "end": 35344, "referenceAllele": "A", "start": 35343 } ], "hgvs": [ "NG_023255.1:g.35344A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS003747" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1675, "referenceAllele": "A", "start": 1674 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000222399.11:c.1538A>C" ], "proteinEffect": { "hgvs": "ENSP00000222399.6:p.Asp513Ala", "hgvsWellDefined": "ENSP00000222399.6:p.Asp513Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS740572", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222399.11:c.1538A>C" }, "RefSeq": { "hgvs": "NM_002291.3:c.1538A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222399.6:p.Asp513Ala" }, "RefSeq": { "hgvs": "NP_002282.2:p.Asp513Ala" } } } }, { "coordinates": [ { "allele": "C", "end": 1643, "referenceAllele": "A", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000393561.6:c.1127A>C" ], "proteinEffect": { "hgvs": "ENSP00000377191.2:p.Asp376Ala", "hgvsWellDefined": "ENSP00000377191.2:p.Asp376Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS753137" }, { "coordinates": [ { "allele": "C", "end": 1948, "referenceAllele": "A", "start": 1947 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000439976.6:c.1796A>C" ], "proteinEffect": { "hgvs": "ENSP00000412686.2:p.Asp599Ala", "hgvsWellDefined": "ENSP00000412686.2:p.Asp599Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS755775" }, { "coordinates": [ { "allele": "C", "end": 1727, "referenceAllele": "A", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000676574.1:c.1538A>C" ], "proteinEffect": { "hgvs": "ENSP00000503081.1:p.Asp513Ala", "hgvsWellDefined": "ENSP00000503081.1:p.Asp513Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS776252" }, { "coordinates": [ { "allele": "C", "end": 1675, "referenceAllele": "A", "start": 1674 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000676777.1:c.1538A>C" ], "proteinEffect": { "hgvs": "ENSP00000504756.1:p.Asp513Ala", "hgvsWellDefined": "ENSP00000504756.1:p.Asp513Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS776449" }, { "coordinates": [ { "allele": "C", "end": 1643, "referenceAllele": "A", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000676920.1:c.1127A>C" ], "proteinEffect": { "hgvs": "ENSP00000503814.1:p.Asp376Ala", "hgvsWellDefined": "ENSP00000503814.1:p.Asp376Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS776591" }, { "coordinates": [ { "allele": "C", "end": 1581, "referenceAllele": "A", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677101.1:c.*1174A>C" ], "proteinEffect": { "hgvs": "ENSP00000503156.1:n.*1174A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776767" }, { "coordinates": [ { "allele": "C", "end": 1727, "referenceAllele": "A", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677144.1:c.1538A>C" ], "proteinEffect": { "hgvs": "ENSP00000503049.1:p.Asp513Ala", "hgvsWellDefined": "ENSP00000503049.1:p.Asp513Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS776809" }, { "coordinates": [ { "allele": "C", "end": 2762, "referenceAllele": "A", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677485.1:n.2762A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777147" }, { "coordinates": [ { "allele": "C", "end": 1727, "referenceAllele": "A", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677588.1:c.1538A>C" ], "proteinEffect": { "hgvs": "ENSP00000502938.1:p.Asp513Ala", "hgvsWellDefined": "ENSP00000502938.1:p.Asp513Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS777247" }, { "coordinates": [ { "allele": "C", "end": 1727, "referenceAllele": "A", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677652.1:n.1727A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777310" }, { "coordinates": [ { "allele": "C", "end": 1727, "referenceAllele": "A", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677734.1:n.1727A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777389" }, { "coordinates": [ { "allele": "C", "end": 1727, "referenceAllele": "A", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677793.1:c.1538A>C" ], "proteinEffect": { "hgvs": "ENSP00000504020.1:p.Asp513Ala", "hgvsWellDefined": "ENSP00000504020.1:p.Asp513Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS777445" }, { "coordinates": [ { "allele": "C", "end": 1695, "referenceAllele": "A", "start": 1694 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677801.1:c.1127A>C" ], "proteinEffect": { "hgvs": "ENSP00000503438.1:p.Asp376Ala", "hgvsWellDefined": "ENSP00000503438.1:p.Asp376Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS777453" }, { "coordinates": [ { "allele": "C", "end": 1704, "referenceAllele": "A", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677994.1:n.1704A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777644" }, { "coordinates": [ { "allele": "C", "end": 1727, "referenceAllele": "A", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678232.1:n.1727A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777880" }, { "coordinates": [ { "allele": "C", "end": 1680, "referenceAllele": "A", "start": 1679 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678266.1:n.1680A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777914" }, { "coordinates": [ { "allele": "C", "end": 1708, "referenceAllele": "A", "start": 1707 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678346.1:c.*1174A>C" ], "proteinEffect": { "hgvs": "ENSP00000504349.1:n.*1174A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS777993" }, { "coordinates": [ { "allele": "C", "end": 1695, "referenceAllele": "A", "start": 1694 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678698.1:c.1127A>C" ], "proteinEffect": { "hgvs": "ENSP00000503198.1:p.Asp376Ala", "hgvsWellDefined": "ENSP00000503198.1:p.Asp376Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS778337" }, { "coordinates": [ { "allele": "C", "end": 1731, "referenceAllele": "A", "start": 1730 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678704.1:c.*120A>C" ], "proteinEffect": { "hgvs": "ENSP00000504589.1:n.*120A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778343" }, { "coordinates": [ { "allele": "C", "end": 1727, "referenceAllele": "A", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678892.1:c.1538A>C" ], "proteinEffect": { "hgvs": "ENSP00000504841.1:p.Asp513Ala", "hgvsWellDefined": "ENSP00000504841.1:p.Asp513Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS778529" }, { "coordinates": [ { "allele": "C", "end": 1727, "referenceAllele": "A", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000679173.1:n.1727A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS778808" }, { "coordinates": [ { "allele": "C", "end": 1643, "referenceAllele": "A", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000679200.1:c.1127A>C" ], "proteinEffect": { "hgvs": "ENSP00000503498.1:p.Asp376Ala", "hgvsWellDefined": "ENSP00000503498.1:p.Asp376Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS778834" }, { "coordinates": [ { "allele": "C", "end": 1727, "referenceAllele": "A", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000679244.1:c.1538A>C" ], "proteinEffect": { "hgvs": "ENSP00000504656.1:p.Asp513Ala", "hgvsWellDefined": "ENSP00000504656.1:p.Asp513Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS778878" }, { "coordinates": [ { "allele": "C", "end": 1769, "referenceAllele": "A", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000222399.10:c.1538A>C" ], "proteinEffect": { "hgvs": "ENSP00000222399.6:p.Asp513Ala", "hgvsWellDefined": "ENSP00000222399.6:p.Asp513Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS248377" }, { "coordinates": [ { "allele": "C", "end": 1701, "referenceAllele": "A", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000393560.5:c.1538A>C" ], "proteinEffect": { "hgvs": "ENSP00000377190.1:p.Asp513Ala", "hgvsWellDefined": "ENSP00000377190.1:p.Asp513Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS275690" }, { "coordinates": [ { "allele": "C", "end": 1795, "referenceAllele": "A", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000393561.5:c.1610A>C" ], "proteinEffect": { "hgvs": "ENSP00000377191.1:p.Asp537Ala", "hgvsWellDefined": "ENSP00000377191.1:p.Asp537Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS275691" }, { "coordinates": [ { "allele": "C", "end": 1873, "referenceAllele": "A", "start": 1872 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "NM_002291.2:c.1538A>C" ], "proteinEffect": { "hgvs": "NP_002282.2:p.Asp513Ala", "hgvsWellDefined": "NP_002282.2:p.Asp513Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS027611" }, { "coordinates": [ { "allele": "C", "end": 1693, "referenceAllele": "A", "start": 1692 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XM_011516203.1:c.1538A>C" ], "proteinEffect": { "hgvs": "XP_011514505.1:p.Asp513Ala", "hgvsWellDefined": "XP_011514505.1:p.Asp513Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS083406" }, { "coordinates": [ { "allele": "C", "end": 2341, "referenceAllele": "A", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XM_017012201.1:c.1610A>C" ], "proteinEffect": { "hgvs": "XP_016867690.1:p.Asp537Ala", "hgvsWellDefined": "XP_016867690.1:p.Asp537Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS565855" }, { "coordinates": [ { "allele": "C", "end": 2341, "referenceAllele": "A", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XM_017012202.1:c.1610A>C" ], "proteinEffect": { "hgvs": "XP_016867691.1:p.Asp537Ala", "hgvsWellDefined": "XP_016867691.1:p.Asp537Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS565856" }, { "coordinates": [ { "allele": "C", "end": 2341, "referenceAllele": "A", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XR_001744756.1:n.2341A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS593442" }, { "coordinates": [ { "allele": "C", "end": 1675, "referenceAllele": "A", "start": 1674 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "NM_002291.3:c.1538A>C" ], "proteinEffect": { "hgvs": "NP_002282.2:p.Asp513Ala", "hgvsWellDefined": "NP_002282.2:p.Asp513Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS665454", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222399.11:c.1538A>C" }, "RefSeq": { "hgvs": "NM_002291.3:c.1538A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222399.6:p.Asp513Ala" }, "RefSeq": { "hgvs": "NP_002282.2:p.Asp513Ala" } } } } ], "type": "nucleotide" }