Revel Score:
ENST00000433529 (MANE Select)
0.114
ENST00000415783
0.114
ENST00000477807
0.114
ENST00000282574
0.114
ENST00000445587
0.114
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005937 (SAS)
Exomes Max Group AF
0.00006246 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70212795G>A , CM000664.2:g.70212795G>A | GRCh38 |
| NC_000002.11:g.70439927G>A , CM000664.1:g.70439927G>A | GRCh37 |
| NC_000002.10:g.70293431G>A | NCBI36 |
| NG_029967.1:g.40853C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433529.7:c.1085C>T (TIA1) MANE Select | ENSP00000401371.2:p.Pro362Leu | |
| ENST00000282574.8:c.1082C>T (TIA1) | ENSP00000282574.4:p.Pro361Leu | |
| ENST00000415783.6:c.1052C>T (TIA1) | ENSP00000404023.2:p.Pro351Leu | |
| ENST00000433529.6:c.1085C>T (TIA1) | ENSP00000401371.2:p.Pro362Leu | |
| ENST00000445587.5:c.782C>T (TIA1) | ENSP00000399567.1:p.Pro261Leu | |
| ENST00000470096.1:n.212-30798C>T (C2orf42) | ||
| ENST00000486392.5:n.395C>T (TIA1) | ||
| ENST00000495774.1:n.487C>T (TIA1) | ||
| NM_022037.2:c.1052C>T (TIA1) | NP_071320.2:p.Pro351Leu | |
| NM_022173.2:c.1085C>T (TIA1) | NP_071505.2:p.Pro362Leu | |
| XM_005264527.1:c.1049C>T (TIA1) | XP_005264584.1:p.Pro350Leu | |
| XM_005264528.3:c.890C>T (TIA1) | XP_005264585.1:p.Pro297Leu | |
| XM_005264531.1:c.782C>T (TIA1) | XP_005264588.1:p.Pro261Leu | |
| XM_011533077.1:c.1082C>T (TIA1) | XP_011531379.1:p.Pro361Leu | |
| XM_011533078.1:c.785C>T (TIA1) | XP_011531380.1:p.Pro262Leu | |
| XM_011533079.1:c.785C>T (TIA1) | XP_011531381.1:p.Pro262Leu | |
| XM_011533080.1:c.785C>T (TIA1) | XP_011531382.1:p.Pro262Leu | |
| XM_011533081.1:c.785C>T (TIA1) | XP_011531383.1:p.Pro262Leu | |
| XM_011533082.1:c.785C>T (TIA1) | XP_011531384.1:p.Pro262Leu | |
| XM_011533083.1:c.665C>T (TIA1) | XP_011531385.1:p.Pro222Leu | |
| XR_244955.1:n.1442C>T (TIA1) | ||
| XR_939714.1:n.1421C>T (TIA1) | ||
| NM_001351508.1:c.1082C>T (TIA1) | NP_001338437.1:p.Pro361Leu | |
| NM_001351509.1:c.1058C>T (TIA1) | NP_001338438.1:p.Pro353Leu | |
| NM_001351510.1:c.1049C>T (TIA1) | NP_001338439.1:p.Pro350Leu | |
| NM_001351511.1:c.974C>T (TIA1) | NP_001338440.1:p.Pro325Leu | |
| NM_001351512.1:c.947C>T (TIA1) | NP_001338441.1:p.Pro316Leu | |
| NM_001351513.1:c.941C>T (TIA1) | NP_001338442.1:p.Pro314Leu | |
| NM_001351514.1:c.857C>T (TIA1) | NP_001338443.1:p.Pro286Leu | |
| NM_001351515.1:c.782C>T (TIA1) | NP_001338444.1:p.Pro261Leu | |
| NM_001351517.1:c.662C>T (TIA1) | NP_001338446.1:p.Pro221Leu | |
| NM_001351524.1:c.665C>T (TIA1) | NP_001338453.1:p.Pro222Leu | |
| NM_001351525.1:c.665C>T (TIA1) | NP_001338454.1:p.Pro222Leu | |
| NM_022037.3:c.1052C>T (TIA1) | NP_071320.2:p.Pro351Leu | |
| NM_022173.3:c.1085C>T (TIA1) | NP_071505.2:p.Pro362Leu | |
| NR_147216.1:n.1442C>T (TIA1) | ||
| NR_147217.1:n.1323C>T (TIA1) | ||
| NR_147218.1:n.1320C>T (TIA1) | ||
| NR_147219.1:n.1557C>T (TIA1) | ||
| NR_147220.1:n.1543C>T (TIA1) | ||
| NR_147221.1:n.1614C>T (TIA1) | ||
| NR_147222.1:n.1609C>T (TIA1) | ||
| NR_147223.1:n.1667C>T (TIA1) | ||
| NR_147224.1:n.1545C>T (TIA1) | ||
| NR_147225.1:n.1700C>T (TIA1) | ||
| NR_147226.1:n.1548C>T (TIA1) | ||
| NR_147227.1:n.1618C>T (TIA1) | ||
| NR_147228.1:n.1581C>T (TIA1) | ||
| NR_147229.1:n.1524C>T (TIA1) | ||
| NR_147230.1:n.1766C>T (TIA1) | ||
| NR_147231.1:n.1578C>T (TIA1) | ||
| NR_147232.1:n.1451C>T (TIA1) | ||
| XM_005264528.5:c.890C>T (TIA1) | XP_005264585.1:p.Pro297Leu | |
| XM_005264531.2:c.782C>T (TIA1) | XP_005264588.1:p.Pro261Leu | |
| XM_011533082.2:c.785C>T (TIA1) | XP_011531384.1:p.Pro262Leu | |
| XM_017004792.1:c.785C>T (TIA1) | XP_016860281.1:p.Pro262Leu | |
| XM_017004793.2:c.785C>T (TIA1) | XP_016860282.1:p.Pro262Leu | |
| XM_017004794.1:c.785C>T (TIA1) | XP_016860283.1:p.Pro262Leu | |
| XM_017004795.1:c.782C>T (TIA1) | XP_016860284.1:p.Pro261Leu | |
| XM_017004796.1:c.665C>T (TIA1) | XP_016860285.1:p.Pro222Leu | |
| XM_017004800.1:c.665C>T (TIA1) | XP_016860289.1:p.Pro222Leu | |
| XM_024453063.1:c.665C>T (TIA1) | XP_024308831.1:p.Pro222Leu | |
| XM_024453064.1:c.665C>T (TIA1) | XP_024308832.1:p.Pro222Leu | |
| XM_024453065.1:c.665C>T (TIA1) | XP_024308833.1:p.Pro222Leu | |
| XM_024453066.1:c.665C>T (TIA1) | XP_024308834.1:p.Pro222Leu | |
| XM_024453067.1:c.662C>T (TIA1) | XP_024308835.1:p.Pro221Leu | |
| XR_002959329.1:n.4669C>T (TIA1) | ||
| XR_002959330.1:n.2503C>T (TIA1) | ||
| XR_002959331.1:n.4666C>T (TIA1) | ||
| XR_002959332.1:n.2209C>T (TIA1) | ||
| NM_022173.4:c.1085C>T (TIA1) MANE Select | NP_071505.2:p.Pro362Leu | |
| NM_001351508.2:c.1082C>T (TIA1) | NP_001338437.1:p.Pro361Leu | |
| NM_001351509.2:c.1058C>T (TIA1) | NP_001338438.1:p.Pro353Leu | |
| NM_001351510.2:c.1049C>T (TIA1) | NP_001338439.1:p.Pro350Leu | |
| NM_001351514.2:c.857C>T (TIA1) | NP_001338443.1:p.Pro286Leu | |
| NM_001351515.2:c.782C>T (TIA1) | NP_001338444.1:p.Pro261Leu | |
| NM_001351517.2:c.662C>T (TIA1) | NP_001338446.1:p.Pro221Leu | |
| NM_001351524.2:c.665C>T (TIA1) | NP_001338453.1:p.Pro222Leu | |
| NM_001351525.2:c.665C>T (TIA1) | NP_001338454.1:p.Pro222Leu | |
| NM_022037.4:c.1052C>T (TIA1) | NP_071320.2:p.Pro351Leu | |
| NR_147219.2:n.1392C>T (TIA1) | ||
| NR_147220.2:n.1378C>T (TIA1) | ||
| NR_147221.2:n.1449C>T (TIA1) | ||
| NR_147222.2:n.1444C>T (TIA1) | ||
| NR_147223.2:n.1502C>T (TIA1) | ||
| NR_147224.2:n.1380C>T (TIA1) | ||
| NR_147225.2:n.1535C>T (TIA1) | ||
| NR_147226.2:n.1383C>T (TIA1) | ||
| NR_147227.2:n.1453C>T (TIA1) | ||
| NR_147228.2:n.1416C>T (TIA1) | ||
| NR_147229.2:n.1359C>T (TIA1) | ||
| NR_147230.2:n.1601C>T (TIA1) | ||
| NR_147231.2:n.1413C>T (TIA1) | ||
| NR_147232.2:n.1286C>T (TIA1) |