Linked Data
ClinVar Variation Id:
770711
ClinVar RCV Id:
RCV000949905
dbSNP Id:
rs1187998909
gnomAD v2:
4-54325465-C-T
gnomAD v3:
4-53459298-C-T
gnomAD v4:
4-53459298-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.53459298C>T , CM000666.2:g.53459298C>T | GRCh38 |
| NC_000004.11:g.54325465C>T , CM000666.1:g.54325465C>T | GRCh37 |
| NC_000004.10:g.54020222C>T | NCBI36 |
| NG_008644.1:g.86646C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504094.2:c.1452-4C>T (FIP1L1) | ENSP00000421691.2:n.1452-4C>T | |
| ENST00000511055.2:n.2353-4C>T (FIP1L1) | ||
| ENST00000703451.1:c.1485-4C>T (FIP1L1) | ENSP00000515302.1:n.1485-4C>T | |
| ENST00000703452.1:c.1551-4C>T (FIP1L1) | ENSP00000515303.1:n.1551-4C>T | |
| ENST00000703453.1:c.1596-4C>T (FIP1L1) | ENSP00000515304.1:n.1596-4C>T | |
| ENST00000703454.1:c.1665-4C>T (FIP1L1) | ENSP00000515305.1:n.1665-4C>T | |
| ENST00000703455.1:c.1488-4C>T (FIP1L1) | ENSP00000515306.1:n.1488-4C>T | |
| ENST00000703456.1:c.1451-4C>T (FIP1L1) | ENSP00000515307.1:n.1451-4C>T | |
| ENST00000703457.1:c.1524-4C>T (FIP1L1) | ENSP00000515308.1:n.1524-4C>T | |
| ENST00000703458.1:c.1443-4C>T (FIP1L1) | ENSP00000515309.1:n.1443-4C>T | |
| ENST00000703459.1:c.1512-10C>T (FIP1L1) | ENSP00000515310.1:n.1512-10C>T | |
| ENST00000703460.1:c.1545-10C>T (FIP1L1) | ENSP00000515311.1:n.1545-10C>T | |
| ENST00000703461.1:c.1406-4C>T (FIP1L1) | ENSP00000515312.1:n.1406-4C>T | |
| ENST00000703462.1:c.*413-4C>T (FIP1L1) | ENSP00000515313.1:n.*413-4C>T | |
| ENST00000703463.1:c.*590-4C>T (FIP1L1) | ENSP00000515314.1:n.*590-4C>T | |
| ENST00000703464.1:c.*476-4C>T (FIP1L1) | ENSP00000515315.1:n.*476-4C>T | |
| ENST00000703465.1:c.*617-4C>T (FIP1L1) | ENSP00000515316.1:n.*617-4C>T | |
| ENST00000703466.1:c.1512-4C>T (FIP1L1) | ENSP00000515317.1:n.1512-4C>T | |
| ENST00000703467.1:c.1419-4C>T (FIP1L1) | ENSP00000515318.1:n.1419-4C>T | |
| ENST00000703468.1:c.1425-4C>T (FIP1L1) | ENSP00000515319.1:n.1425-4C>T | |
| ENST00000703469.1:c.1629-4C>T (FIP1L1) | ENSP00000515320.1:n.1629-4C>T | |
| ENST00000703470.1:c.1560-4C>T (FIP1L1) | ENSP00000515321.1:n.1560-4C>T | |
| ENST00000703471.1:c.1437-4C>T (FIP1L1) | ENSP00000515322.1:n.1437-4C>T | |
| ENST00000703472.1:c.1587-4C>T (FIP1L1) | ENSP00000515323.1:n.1587-4C>T | |
| ENST00000703473.1:c.1518-4C>T (FIP1L1) | ENSP00000515324.1:n.1518-4C>T | |
| ENST00000703474.1:c.1632-4C>T (FIP1L1) | ENSP00000515325.1:n.1632-4C>T | |
| ENST00000703475.1:c.1593-4C>T (FIP1L1) | ENSP00000515326.1:n.1593-4C>T | |
| ENST00000703476.1:c.1557-4C>T (FIP1L1) | ENSP00000515327.1:n.1557-4C>T | |
| ENST00000703478.1:c.1274-4C>T (FIP1L1) | ENSP00000515328.1:n.1274-4C>T | |
| ENST00000703479.1:c.1355-4C>T (FIP1L1) | ENSP00000515329.1:n.1355-4C>T | |
| ENST00000703480.1:c.1382-4C>T (FIP1L1) | ENSP00000515330.1:n.1382-4C>T | |
| ENST00000703481.1:c.1596-10C>T (FIP1L1) | ENSP00000515331.1:n.1596-10C>T | |
| ENST00000703482.1:c.1551-4C>T (FIP1L1) | ENSP00000515332.1:n.1551-4C>T | |
| ENST00000703483.1:c.1590-4C>T (FIP1L1) | ENSP00000515333.1:n.1590-4C>T | |
| ENST00000703484.1:c.1659-4C>T (FIP1L1) | ENSP00000515334.1:n.1659-4C>T | |
| ENST00000703485.1:c.1562-4C>T (FIP1L1) | ENSP00000515335.1:n.1562-4C>T | |
| ENST00000703486.1:c.1605-4C>T (FIP1L1) | ENSP00000515336.1:n.1605-4C>T | |
| ENST00000703487.1:c.*971-4C>T (FIP1L1) | ENSP00000515337.1:n.*971-4C>T | |
| ENST00000703488.1:c.*716-4C>T (FIP1L1) | ENSP00000515338.1:n.*716-4C>T | |
| ENST00000703489.1:c.1638-4C>T (FIP1L1) | ENSP00000515339.1:n.1638-4C>T | |
| ENST00000703490.1:c.1530-4C>T (FIP1L1) | ENSP00000515340.1:n.1530-4C>T | |
| ENST00000703491.1:c.1461-4C>T (FIP1L1) | ENSP00000515341.1:n.1461-4C>T | |
| ENST00000703492.1:c.1569-4C>T (FIP1L1) | ENSP00000515342.1:n.1569-4C>T | |
| ENST00000703493.1:n.3730-4C>T (FIP1L1) | ||
| ENST00000703494.1:n.3907-4C>T (FIP1L1) | ||
| ENST00000703495.1:n.3838-4C>T (FIP1L1) | ||
| ENST00000703496.1:n.3217-4C>T (FIP1L1) | ||
| ENST00000703497.1:c.1566-4C>T (FIP1L1) | ENSP00000515343.1:n.1566-4C>T | |
| ENST00000703498.1:c.*1334-4C>T (FIP1L1) | ENSP00000515344.1:n.*1334-4C>T | |
| ENST00000703499.1:c.1424-4C>T (FIP1L1) | ENSP00000515345.1:n.1424-4C>T | |
| ENST00000703500.1:c.1488-4C>T (FIP1L1) | ENSP00000515346.1:n.1488-4C>T | |
| ENST00000703501.1:n.1452-4C>T (FIP1L1) | ||
| ENST00000703502.1:n.881-4C>T (FIP1L1) | ||
| ENST00000703503.1:n.958-4C>T (FIP1L1) | ||
| ENST00000337488.11:c.1638-4C>T (FIP1L1) MANE Select | ENSP00000336752.6:n.1638-4C>T | |
| ENST00000306932.10:c.1416-4C>T (FIP1L1) | ENSP00000302993.6:n.1416-4C>T | |
| ENST00000337488.10:c.1638-4C>T (FIP1L1) | ENSP00000336752.6:n.1638-4C>T | |
| ENST00000358575.9:c.1620-4C>T (FIP1L1) | ENSP00000351383.5:n.1620-4C>T | |
| ENST00000504094.1:c.618-4C>T (FIP1L1) | ENSP00000421691.1:n.618-4C>T | |
| ENST00000505125.5:n.2861-4C>T (FIP1L1) | ||
| ENST00000507166.5:c.1017+33333C>T | ENSP00000423325.1:n.1017+33333C>T | |
| ENST00000507206.1:n.241-4C>T (FIP1L1) | ||
| ENST00000513008.5:n.751-4C>T (FIP1L1) | ||
| ENST00000514543.5:c.1149-4C>T (FIP1L1) | ||
| NM_001134937.1:c.1620-4C>T (FIP1L1) | NP_001128409.1:n.1620-4C>T | |
| NM_001134938.1:c.1416-4C>T (FIP1L1) | NP_001128410.1:n.1416-4C>T | |
| NM_030917.3:c.1638-4C>T (FIP1L1) | NP_112179.2:n.1638-4C>T | |
| XM_005265768.3:c.1674-4C>T (FIP1L1) | XP_005265825.1:n.1674-4C>T | |
| XM_005265769.3:c.1665-4C>T (FIP1L1) | XP_005265826.1:n.1665-4C>T | |
| XM_005265770.3:c.1647-4C>T (FIP1L1) | XP_005265827.1:n.1647-4C>T | |
| XM_005265771.3:c.1629-4C>T (FIP1L1) | XP_005265828.1:n.1629-4C>T | |
| XM_005265772.3:c.1605-4C>T (FIP1L1) | XP_005265829.1:n.1605-4C>T | |
| XM_005265773.3:c.1596-4C>T (FIP1L1) | XP_005265830.1:n.1596-4C>T | |
| XM_005265774.3:c.1569-4C>T (FIP1L1) | XP_005265831.1:n.1569-4C>T | |
| XM_005265775.3:c.1566-4C>T (FIP1L1) | XP_005265832.1:n.1566-4C>T | |
| XM_005265776.3:c.1560-4C>T (FIP1L1) | XP_005265833.1:n.1560-4C>T | |
| XM_005265777.3:c.1539-4C>T (FIP1L1) | XP_005265834.1:n.1539-4C>T | |
| XM_005265778.3:c.1451-4C>T (FIP1L1) | XP_005265835.1:n.1451-4C>T | |
| XM_005265779.3:c.1424-4C>T (FIP1L1) | XP_005265836.1:n.1424-4C>T | |
| XM_005265780.3:c.1497-4C>T (FIP1L1) | XP_005265837.1:n.1497-4C>T | |
| XM_005265781.3:c.1488-4C>T (FIP1L1) | XP_005265838.1:n.1488-4C>T | |
| XM_005265782.3:c.1461-4C>T (FIP1L1) | XP_005265839.1:n.1461-4C>T | |
| XM_005265769.4:c.1665-4C>T (FIP1L1) | XP_005265826.1:n.1665-4C>T | |
| XM_005265773.4:c.1596-4C>T (FIP1L1) | XP_005265830.1:n.1596-4C>T | |
| XM_005265774.4:c.1569-4C>T (FIP1L1) | XP_005265831.1:n.1569-4C>T | |
| XM_005265778.4:c.1451-4C>T (FIP1L1) | XP_005265835.1:n.1451-4C>T | |
| XM_005265779.4:c.1424-4C>T (FIP1L1) | XP_005265836.1:n.1424-4C>T | |
| XM_005265781.4:c.1488-4C>T (FIP1L1) | XP_005265838.1:n.1488-4C>T | |
| XM_005265782.4:c.1461-4C>T (FIP1L1) | XP_005265839.1:n.1461-4C>T | |
| XM_017008662.1:c.1593-4C>T (FIP1L1) | XP_016864151.1:n.1593-4C>T | |
| XM_017008663.1:c.1557-4C>T (FIP1L1) | XP_016864152.1:n.1557-4C>T | |
| XM_017008664.1:c.1551-4C>T (FIP1L1) | XP_016864153.1:n.1551-4C>T | |
| XM_017008665.1:c.1530-4C>T (FIP1L1) | XP_016864154.1:n.1530-4C>T | |
| XM_017008666.1:c.1524-4C>T (FIP1L1) | XP_016864155.1:n.1524-4C>T | |
| XM_017008667.1:c.1512-4C>T (FIP1L1) | XP_016864156.1:n.1512-4C>T | |
| XM_017008668.1:c.1485-4C>T (FIP1L1) | XP_016864157.1:n.1485-4C>T | |
| XM_017008669.1:c.1443-4C>T (FIP1L1) | XP_016864158.1:n.1443-4C>T | |
| XM_017008670.1:c.1355-4C>T (FIP1L1) | XP_016864159.1:n.1355-4C>T | |
| XM_017008671.1:c.1274-4C>T (FIP1L1) | XP_016864160.1:n.1274-4C>T | |
| XM_017008776.1:c.*1609G>A (LNX1) | XP_016864265.1:n.*1609G>A | |
| XM_024454261.1:c.*1609G>A (LNX1) | XP_024310029.1:n.*1609G>A | |
| NM_030917.4:c.1638-4C>T (FIP1L1) MANE Select | NP_112179.2:n.1638-4C>T | |
| NM_001134937.2:c.1620-4C>T (FIP1L1) | NP_001128409.1:n.1620-4C>T | |
| NM_001134938.2:c.1416-4C>T (FIP1L1) | NP_001128410.1:n.1416-4C>T | |
| NM_001376744.1:c.1674-4C>T (FIP1L1) | NP_001363673.1:n.1674-4C>T | |
| NM_001376745.1:c.1665-4C>T (FIP1L1) | NP_001363674.1:n.1665-4C>T | |
| NM_001376746.1:c.1659-4C>T (FIP1L1) | NP_001363675.1:n.1659-4C>T | |
| NM_001376747.1:c.1562-4C>T (FIP1L1) | NP_001363676.1:n.1562-4C>T | |
| NM_001376748.1:c.1605-4C>T (FIP1L1) | NP_001363677.1:n.1605-4C>T | |
| NM_001376749.1:c.1596-4C>T (FIP1L1) | NP_001363678.1:n.1596-4C>T | |
| NM_001376750.1:c.1593-4C>T (FIP1L1) | NP_001363679.1:n.1593-4C>T | |
| NM_001376751.1:c.1590-4C>T (FIP1L1) | NP_001363680.1:n.1590-4C>T | |
| NM_001376752.1:c.1596-10C>T (FIP1L1) | NP_001363681.1:n.1596-10C>T | |
| NM_001376753.1:c.1578-4C>T (FIP1L1) | NP_001363682.1:n.1578-4C>T | |
| NM_001376754.1:c.1569-4C>T (FIP1L1) | NP_001363683.1:n.1569-4C>T | |
| NM_001376755.1:c.1566-4C>T (FIP1L1) | NP_001363684.1:n.1566-4C>T | |
| NM_001376756.1:c.1566-4C>T (FIP1L1) | NP_001363685.1:n.1566-4C>T | |
| NM_001376757.1:c.1481-4C>T (FIP1L1) | NP_001363686.1:n.1481-4C>T | |
| NM_001376758.1:c.1560-4C>T (FIP1L1) | NP_001363687.1:n.1560-4C>T | |
| NM_001376759.1:c.1557-4C>T (FIP1L1) | NP_001363688.1:n.1557-4C>T | |
| NM_001376760.1:c.1551-4C>T (FIP1L1) | NP_001363689.1:n.1551-4C>T | |
| NM_001376761.1:c.1551-4C>T (FIP1L1) | NP_001363690.1:n.1551-4C>T | |
| NM_001376762.1:c.1545-4C>T (FIP1L1) | NP_001363691.1:n.1545-4C>T | |
| NM_001376764.1:c.1545-10C>T (FIP1L1) | NP_001363693.1:n.1545-10C>T | |
| NM_001376765.1:c.1530-4C>T (FIP1L1) | NP_001363694.1:n.1530-4C>T | |
| NM_001376766.1:c.1451-4C>T (FIP1L1) | NP_001363695.1:n.1451-4C>T | |
| NM_001376767.1:c.1524-4C>T (FIP1L1) | NP_001363696.1:n.1524-4C>T | |
| NM_001376768.1:c.1518-4C>T (FIP1L1) | NP_001363697.1:n.1518-4C>T | |
| NM_001376769.1:c.1512-4C>T (FIP1L1) | NP_001363698.1:n.1512-4C>T | |
| NM_001376770.1:c.1418-4C>T (FIP1L1) | NP_001363699.1:n.1418-4C>T | |
| NM_001376771.1:c.1488-4C>T (FIP1L1) | NP_001363700.1:n.1488-4C>T | |
| NM_001376772.1:c.1488-4C>T (FIP1L1) | NP_001363701.1:n.1488-4C>T | |
| NM_001376773.1:c.1485-4C>T (FIP1L1) | NP_001363702.1:n.1485-4C>T | |
| NM_001376774.1:c.1470-4C>T (FIP1L1) | NP_001363703.1:n.1470-4C>T | |
| NM_001376775.1:c.1461-4C>T (FIP1L1) | NP_001363704.1:n.1461-4C>T | |
| NM_001376776.1:c.1379-4C>T (FIP1L1) | NP_001363705.1:n.1379-4C>T | |
| NM_001376777.1:c.1455-4C>T (FIP1L1) | NP_001363706.1:n.1455-4C>T | |
| NM_001376778.1:c.1452-4C>T (FIP1L1) | NP_001363707.1:n.1452-4C>T | |
| NM_001376779.1:c.1443-4C>T (FIP1L1) | NP_001363708.1:n.1443-4C>T | |
| NM_001376780.1:c.1437-4C>T (FIP1L1) | NP_001363709.1:n.1437-4C>T | |
| NM_001376781.1:c.1425-4C>T (FIP1L1) | NP_001363710.1:n.1425-4C>T | |
| NM_001376782.1:c.1413-4C>T (FIP1L1) | NP_001363711.1:n.1413-4C>T | |
| NM_001376783.1:c.1410-4C>T (FIP1L1) | NP_001363712.1:n.1410-4C>T | |
| NM_001376784.1:c.1331-4C>T (FIP1L1) | NP_001363713.1:n.1331-4C>T | |
| NM_001376785.1:c.1395-4C>T (FIP1L1) | NP_001363714.1:n.1395-4C>T | |
| NM_001376786.1:c.1274-4C>T (FIP1L1) | NP_001363715.1:n.1274-4C>T | |
| NR_164847.1:n.1655-4C>T (FIP1L1) | ||
| NR_164848.1:n.1955-4C>T (FIP1L1) | ||
| NR_164849.1:n.1748-4C>T (FIP1L1) |