{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA353560074", "communityStandardTitle": [ "NM_001354604.2(MITF):c.1551G>A (p.Met517Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3096018[alleleid]", "alleleId": 3096018, "preferredName": "NM_001354604.2(MITF):c.1551G>A (p.Met517Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2937538", "RCV": [ "RCV003794168" ], "variationId": 2937538 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.70014369G>A?assembly=hg19", "id": "chr3:g.70014369G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.69965218G>A?assembly=hg38", "id": "chr3:g.69965218G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1179860852", "rs": 1179860852 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-70014369-G-A?dataset=gnomad_r2_1", "id": "3-70014369-G-A", "variant": "3:70014369 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-69965218-G-A?dataset=gnomad_r3", "id": "3-69965218-G-A", "variant": "3:69965218 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-69965218-G-A?dataset=gnomad_r4", "id": "3-69965218-G-A", "variant": "3:69965218 G / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 69965218, "referenceAllele": "G", "start": 69965217 } ], "hgvs": [ "NC_000003.12:g.69965218G>A", "CM000665.2:g.69965218G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 70014369, "referenceAllele": "G", "start": 70014368 } ], "hgvs": [ "NC_000003.11:g.70014369G>A", "CM000665.1:g.70014369G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 70097059, "referenceAllele": "G", "start": 70097058 } ], "hgvs": [ "NC_000003.10:g.70097059G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 230737, "referenceAllele": "G", "start": 230736 } ], "hgvs": [ "NG_011631.1:g.230737G>A", "LRG_776:g.230737G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001866" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1552, "referenceAllele": "G", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314589.11:c.1485G>A" ], "proteinEffect": { "hgvs": "ENSP00000324443.5:p.Met495Ile", "hgvsWellDefined": "ENSP00000324443.5:p.Met495Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS904376" }, { "coordinates": [ { "allele": "A", "end": 1804, "referenceAllele": "G", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000687384.1:c.1482G>A" ], "proteinEffect": { "hgvs": "ENSP00000510225.1:p.Met494Ile", "hgvsWellDefined": "ENSP00000510225.1:p.Met494Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS831059" }, { "coordinates": [ { "allele": "A", "end": 1707, "referenceAllele": "G", "start": 1706 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000689390.1:n.1707G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832144" }, { "coordinates": [ { "allele": "A", "end": 1596, "referenceAllele": "G", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000693031.1:c.1458G>A" ], "proteinEffect": { "hgvs": "ENSP00000509845.1:p.Met486Ile", "hgvsWellDefined": "ENSP00000509845.1:p.Met486Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS834028" }, { "coordinates": [ { "allele": "A", "end": 1442, "referenceAllele": "G", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000693549.1:c.*296G>A" ], "proteinEffect": { "hgvs": "ENSP00000509358.1:n.*296G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS834302" }, { "coordinates": [ { "allele": "A", "end": 1552, "referenceAllele": "G", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314589.10:c.1485G>A" ], "proteinEffect": { "hgvs": "ENSP00000324443.5:p.Met495Ile", "hgvsWellDefined": "ENSP00000324443.5:p.Met495Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS745938" }, { "coordinates": [ { "allele": "A", "end": 1685, "referenceAllele": "G", "start": 1684 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000352241.9:c.1551G>A" ], "proteinEffect": { "hgvs": "ENSP00000295600.8:p.Met517Ile", "hgvsWellDefined": "ENSP00000295600.8:p.Met517Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS748483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000352241.9:c.1551G>A" }, "RefSeq": { "hgvs": "NM_001354604.2:c.1551G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295600.8:p.Met517Ile" }, "RefSeq": { "hgvs": "NP_001341533.1:p.Met517Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 1361, "referenceAllele": "G", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000394351.9:c.1230G>A" ], "proteinEffect": { "hgvs": "ENSP00000377880.3:p.Met410Ile", "hgvsWellDefined": "ENSP00000377880.3:p.Met410Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS753248", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394351.9:c.1230G>A" }, "RefSeq": { "hgvs": "NM_000248.4:c.1230G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377880.3:p.Met410Ile" }, "RefSeq": { "hgvs": "NP_000239.1:p.Met410Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 1561, "referenceAllele": "G", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000448226.9:c.1530G>A" ], "proteinEffect": { "hgvs": "ENSP00000391803.3:p.Met510Ile", "hgvsWellDefined": "ENSP00000391803.3:p.Met510Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS756165" }, { "coordinates": [ { "allele": "A", "end": 1649, "referenceAllele": "G", "start": 1648 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000642352.1:c.1533G>A" ], "proteinEffect": { "hgvs": "ENSP00000494105.1:p.Met511Ile", "hgvsWellDefined": "ENSP00000494105.1:p.Met511Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS766693" }, { "coordinates": [ { "allele": "A", "end": 1348, "referenceAllele": "G", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314557.10:c.1212G>A" ], "proteinEffect": { "hgvs": "ENSP00000324246.6:p.Met404Ile", "hgvsWellDefined": "ENSP00000324246.6:p.Met404Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS256974" }, { "coordinates": [ { "allele": "A", "end": 1564, "referenceAllele": "G", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314589.9:c.1485G>A" ], "proteinEffect": { "hgvs": "ENSP00000324443.5:p.Met495Ile", "hgvsWellDefined": "ENSP00000324443.5:p.Met495Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS256980" }, { "coordinates": [ { "allele": "A", "end": 1561, "referenceAllele": "G", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000328528.10:c.1530G>A" ], "proteinEffect": { "hgvs": "ENSP00000327867.6:p.Met510Ile", "hgvsWellDefined": "ENSP00000327867.6:p.Met510Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS258925" }, { "coordinates": [ { "allele": "A", "end": 1696, "referenceAllele": "G", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000352241.8:c.1533G>A" ], "proteinEffect": { "hgvs": "ENSP00000295600.7:p.Met511Ile", "hgvsWellDefined": "ENSP00000295600.7:p.Met511Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS262847" }, { "coordinates": [ { "allele": "A", "end": 1350, "referenceAllele": "G", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000394351.7:c.1230G>A" ], "proteinEffect": { "hgvs": "ENSP00000377880.3:p.Met410Ile", "hgvsWellDefined": "ENSP00000377880.3:p.Met410Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS276136" }, { "coordinates": [ { "allele": "A", "end": 1678, "referenceAllele": "G", "start": 1677 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000448226.6:c.1551G>A" ], "proteinEffect": { "hgvs": "ENSP00000391803.2:p.Met517Ile", "hgvsWellDefined": "ENSP00000391803.2:p.Met517Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS299629" }, { "coordinates": [ { "allele": "A", "end": 1566, "referenceAllele": "G", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000472437.5:c.1377G>A" ], "proteinEffect": { "hgvs": "ENSP00000418845.1:p.Met459Ile", "hgvsWellDefined": "ENSP00000418845.1:p.Met459Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS314406" }, { "coordinates": [ { "allele": "A", "end": 1290, "referenceAllele": "G", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000478490.5:c.*877G>A" ], "proteinEffect": { "hgvs": "ENSP00000433487.1:n.*877G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS319090" }, { "coordinates": [ { "allele": "A", "end": 1044, "referenceAllele": "G", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000531774.1:c.1044G>A" ], "proteinEffect": { "hgvs": "ENSP00000435909.1:p.Met348Ile", "hgvsWellDefined": "ENSP00000435909.1:p.Met348Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS356810" }, { "@id": "http://reg.genome.network/allele/PA2825105746", "coordinates": [ { "allele": "A", "end": 1353, "referenceAllele": "G", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_000248.3:c.1230G>A", "LRG_776t1:c.1230G>A" ], "proteinEffect": { "hgvs": "NP_000239.1:p.Met410Ile", "hgvsWellDefined": "NP_000239.1:p.Met410Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS006310" }, { "@id": "http://reg.genome.network/allele/PA2826151578", "coordinates": [ { "allele": "A", "end": 1566, "referenceAllele": "G", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184967.1:c.1377G>A" ], "proteinEffect": { "hgvs": "NP_001171896.1:p.Met459Ile", "hgvsWellDefined": "NP_001171896.1:p.Met459Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS016055" }, { "@id": "http://reg.genome.network/allele/PA2829651564", "coordinates": [ { "allele": "A", "end": 1561, "referenceAllele": "G", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_006722.2:c.1530G>A" ], "proteinEffect": { "hgvs": "NP_006713.1:p.Met510Ile", "hgvsWellDefined": "NP_006713.1:p.Met510Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS031711" }, { "@id": "http://reg.genome.network/allele/PA2830431584", "coordinates": [ { "allele": "A", "end": 1335, "referenceAllele": "G", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198158.2:c.1212G>A" ], "proteinEffect": { "hgvs": "NP_937801.1:p.Met404Ile", "hgvsWellDefined": "NP_937801.1:p.Met404Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS044446" }, { "@id": "http://reg.genome.network/allele/PA2830432189", "coordinates": [ { "allele": "A", "end": 1696, "referenceAllele": "G", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198159.2:c.1533G>A" ], "proteinEffect": { "hgvs": "NP_937802.1:p.Met511Ile", "hgvsWellDefined": "NP_937802.1:p.Met511Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS044447" }, { "@id": "http://reg.genome.network/allele/PA2830433211", "coordinates": [ { "allele": "A", "end": 1552, "referenceAllele": "G", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198177.2:c.1485G>A" ], "proteinEffect": { "hgvs": "NP_937820.1:p.Met495Ile", "hgvsWellDefined": "NP_937820.1:p.Met495Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS044451" }, { "@id": "http://reg.genome.network/allele/PA2830433724", "coordinates": [ { "allele": "A", "end": 1167, "referenceAllele": "G", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198178.2:c.1044G>A" ], "proteinEffect": { "hgvs": "NP_937821.2:p.Met348Ile", "hgvsWellDefined": "NP_937821.2:p.Met348Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS044452" }, { "coordinates": [ { "allele": "A", "end": 1686, "referenceAllele": "G", "start": 1685 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_005264754.1:c.1551G>A" ], "proteinEffect": { "hgvs": "XP_005264811.1:p.Met517Ile", "hgvsWellDefined": "XP_005264811.1:p.Met517Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS064358" }, { "coordinates": [ { "allele": "A", "end": 1565, "referenceAllele": "G", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_005264755.2:c.1503G>A" ], "proteinEffect": { "hgvs": "XP_005264812.1:p.Met501Ile", "hgvsWellDefined": "XP_005264812.1:p.Met501Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS064359" }, { "coordinates": [ { "allele": "A", "end": 1706, "referenceAllele": "G", "start": 1705 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_006713164.2:c.1395G>A" ], "proteinEffect": { "hgvs": "XP_006713227.1:p.Met465Ile", "hgvsWellDefined": "XP_006713227.1:p.Met465Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070030" }, { "coordinates": [ { "allele": "A", "end": 1689, "referenceAllele": "G", "start": 1688 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533722.1:c.1548G>A" ], "proteinEffect": { "hgvs": "XP_011532024.1:p.Met516Ile", "hgvsWellDefined": "XP_011532024.1:p.Met516Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS100743" }, { "coordinates": [ { "allele": "A", "end": 1552, "referenceAllele": "G", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533723.1:c.1500G>A" ], "proteinEffect": { "hgvs": "XP_011532025.1:p.Met500Ile", "hgvsWellDefined": "XP_011532025.1:p.Met500Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS100744" }, { "coordinates": [ { "allele": "A", "end": 1579, "referenceAllele": "G", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533724.1:c.1395G>A" ], "proteinEffect": { "hgvs": "XP_011532026.1:p.Met465Ile", "hgvsWellDefined": "XP_011532026.1:p.Met465Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS100745" }, { "coordinates": [ { "allele": "A", "end": 1546, "referenceAllele": "G", "start": 1545 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533725.1:c.1383G>A" ], "proteinEffect": { "hgvs": "XP_011532027.1:p.Met461Ile", "hgvsWellDefined": "XP_011532027.1:p.Met461Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS100746" }, { "coordinates": [ { "allele": "A", "end": 1528, "referenceAllele": "G", "start": 1527 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533726.1:c.1365G>A" ], "proteinEffect": { "hgvs": "XP_011532028.1:p.Met455Ile", "hgvsWellDefined": "XP_011532028.1:p.Met455Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS100747" }, { "@id": "http://reg.genome.network/allele/PA2741867458", "coordinates": [ { "allele": "A", "end": 1714, "referenceAllele": "G", "start": 1713 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354604.1:c.1551G>A" ], "proteinEffect": { "hgvs": "NP_001341533.1:p.Met517Ile", "hgvsWellDefined": "NP_001341533.1:p.Met517Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS522548" }, { "@id": "http://reg.genome.network/allele/PA2827881810", "coordinates": [ { "allele": "A", "end": 1711, "referenceAllele": "G", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354605.1:c.1548G>A" ], "proteinEffect": { "hgvs": "NP_001341534.1:p.Met516Ile", "hgvsWellDefined": "NP_001341534.1:p.Met516Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS522549" }, { "@id": "http://reg.genome.network/allele/PA2827882179", "coordinates": [ { "allele": "A", "end": 1693, "referenceAllele": "G", "start": 1692 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354606.1:c.1530G>A" ], "proteinEffect": { "hgvs": "NP_001341535.1:p.Met510Ile", "hgvsWellDefined": "NP_001341535.1:p.Met510Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS522550" }, { "@id": "http://reg.genome.network/allele/PA2827882546", "coordinates": [ { "allele": "A", "end": 1825, "referenceAllele": "G", "start": 1824 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354607.1:c.1482G>A" ], "proteinEffect": { "hgvs": "NP_001341536.1:p.Met494Ile", "hgvsWellDefined": "NP_001341536.1:p.Met494Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS522551" }, { "@id": "http://reg.genome.network/allele/PA2827882893", "coordinates": [ { "allele": "A", "end": 1735, "referenceAllele": "G", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354608.1:c.1377G>A" ], "proteinEffect": { "hgvs": "NP_001341537.1:p.Met459Ile", "hgvsWellDefined": "NP_001341537.1:p.Met459Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS522552" }, { "@id": "http://reg.genome.network/allele/PA2826151578", "coordinates": [ { "allele": "A", "end": 1618, "referenceAllele": "G", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184967.2:c.1377G>A" ], "proteinEffect": { "hgvs": "NP_001171896.1:p.Met459Ile", "hgvsWellDefined": "NP_001171896.1:p.Met459Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS679051" }, { "@id": "http://reg.genome.network/allele/PA2741867458", "coordinates": [ { "allele": "A", "end": 1685, "referenceAllele": "G", "start": 1684 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354604.2:c.1551G>A" ], "proteinEffect": { "hgvs": "NP_001341533.1:p.Met517Ile", "hgvsWellDefined": "NP_001341533.1:p.Met517Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS690248", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000352241.9:c.1551G>A" }, "RefSeq": { "hgvs": "NM_001354604.2:c.1551G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295600.8:p.Met517Ile" }, "RefSeq": { "hgvs": "NP_001341533.1:p.Met517Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2827881810", "coordinates": [ { "allele": "A", "end": 1682, "referenceAllele": "G", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354605.2:c.1548G>A" ], "proteinEffect": { "hgvs": "NP_001341534.1:p.Met516Ile", "hgvsWellDefined": "NP_001341534.1:p.Met516Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS690249" }, { "@id": "http://reg.genome.network/allele/PA2827882179", "coordinates": [ { "allele": "A", "end": 1664, "referenceAllele": "G", "start": 1663 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354606.2:c.1530G>A" ], "proteinEffect": { "hgvs": "NP_001341535.1:p.Met510Ile", "hgvsWellDefined": "NP_001341535.1:p.Met510Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS690250" }, { "@id": "http://reg.genome.network/allele/PA2827882546", "coordinates": [ { "allele": "A", "end": 1796, "referenceAllele": "G", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354607.2:c.1482G>A" ], "proteinEffect": { "hgvs": "NP_001341536.1:p.Met494Ile", "hgvsWellDefined": "NP_001341536.1:p.Met494Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS690251" }, { "@id": "http://reg.genome.network/allele/PA2827882893", "coordinates": [ { "allele": "A", "end": 1706, "referenceAllele": "G", "start": 1705 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354608.2:c.1377G>A" ], "proteinEffect": { "hgvs": "NP_001341537.1:p.Met459Ile", "hgvsWellDefined": "NP_001341537.1:p.Met459Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS690252" }, { "@id": "http://reg.genome.network/allele/PA2830431584", "coordinates": [ { "allele": "A", "end": 1343, "referenceAllele": "G", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198158.3:c.1212G>A" ], "proteinEffect": { "hgvs": "NP_937801.1:p.Met404Ile", "hgvsWellDefined": "NP_937801.1:p.Met404Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS701263" }, { "@id": "http://reg.genome.network/allele/PA2830432189", "coordinates": [ { "allele": "A", "end": 1667, "referenceAllele": "G", "start": 1666 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198159.3:c.1533G>A" ], "proteinEffect": { "hgvs": "NP_937802.1:p.Met511Ile", "hgvsWellDefined": "NP_937802.1:p.Met511Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS701264" }, { "@id": "http://reg.genome.network/allele/PA2830433211", "coordinates": [ { "allele": "A", "end": 1552, "referenceAllele": "G", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198177.3:c.1485G>A" ], "proteinEffect": { "hgvs": "NP_937820.1:p.Met495Ile", "hgvsWellDefined": "NP_937820.1:p.Met495Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS701267" }, { "@id": "http://reg.genome.network/allele/PA2830433724", "coordinates": [ { "allele": "A", "end": 1175, "referenceAllele": "G", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198178.3:c.1044G>A" ], "proteinEffect": { "hgvs": "NP_937821.2:p.Met348Ile", "hgvsWellDefined": "NP_937821.2:p.Met348Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS701268" }, { "@id": "http://reg.genome.network/allele/PA2825105746", "coordinates": [ { "allele": "A", "end": 1361, "referenceAllele": "G", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_000248.4:c.1230G>A" ], "proteinEffect": { "hgvs": "NP_000239.1:p.Met410Ile", "hgvsWellDefined": "NP_000239.1:p.Met410Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS710814", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394351.9:c.1230G>A" }, "RefSeq": { "hgvs": "NM_000248.4:c.1230G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377880.3:p.Met410Ile" }, "RefSeq": { "hgvs": "NP_000239.1:p.Met410Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2829651564", "coordinates": [ { "allele": "A", "end": 1561, "referenceAllele": "G", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_006722.3:c.1530G>A" ], "proteinEffect": { "hgvs": "NP_006713.1:p.Met510Ile", "hgvsWellDefined": "NP_006713.1:p.Met510Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS727772" } ], "type": "nucleotide" }