UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
651295
dbSNP Id:
rs201905164
ExAC:
2:70439934 C / T
gnomAD v2:
2-70439934-C-T
gnomAD v3:
2-70212802-C-T
gnomAD v4:
2-70212802-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70212802C>T , CM000664.2:g.70212802C>T | GRCh38 |
| NC_000002.11:g.70439934C>T , CM000664.1:g.70439934C>T | GRCh37 |
| NC_000002.10:g.70293438C>T | NCBI36 |
| NG_029967.1:g.40846G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433529.7:c.1078G>A (TIA1) MANE Select | ENSP00000401371.2:p.Val360Met | |
| ENST00000282574.8:c.1075G>A (TIA1) | ENSP00000282574.4:p.Val359Met | |
| ENST00000415783.6:c.1045G>A (TIA1) | ENSP00000404023.2:p.Val349Met | |
| ENST00000433529.6:c.1078G>A (TIA1) | ENSP00000401371.2:p.Val360Met | |
| ENST00000445587.5:c.775G>A (TIA1) | ENSP00000399567.1:p.Val259Met | |
| ENST00000470096.1:n.212-30805G>A (C2orf42) | ||
| ENST00000486392.5:n.388G>A (TIA1) | ||
| ENST00000495774.1:n.480G>A (TIA1) | ||
| NM_022037.2:c.1045G>A (TIA1) | NP_071320.2:p.Val349Met | |
| NM_022173.2:c.1078G>A (TIA1) | NP_071505.2:p.Val360Met | |
| XM_005264527.1:c.1042G>A (TIA1) | XP_005264584.1:p.Val348Met | |
| XM_005264528.3:c.883G>A (TIA1) | XP_005264585.1:p.Val295Met | |
| XM_005264531.1:c.775G>A (TIA1) | XP_005264588.1:p.Val259Met | |
| XM_011533077.1:c.1075G>A (TIA1) | XP_011531379.1:p.Val359Met | |
| XM_011533078.1:c.778G>A (TIA1) | XP_011531380.1:p.Val260Met | |
| XM_011533079.1:c.778G>A (TIA1) | XP_011531381.1:p.Val260Met | |
| XM_011533080.1:c.778G>A (TIA1) | XP_011531382.1:p.Val260Met | |
| XM_011533081.1:c.778G>A (TIA1) | XP_011531383.1:p.Val260Met | |
| XM_011533082.1:c.778G>A (TIA1) | XP_011531384.1:p.Val260Met | |
| XM_011533083.1:c.658G>A (TIA1) | XP_011531385.1:p.Val220Met | |
| XR_244955.1:n.1435G>A (TIA1) | ||
| XR_939714.1:n.1414G>A (TIA1) | ||
| NM_001351508.1:c.1075G>A (TIA1) | NP_001338437.1:p.Val359Met | |
| NM_001351509.1:c.1051G>A (TIA1) | NP_001338438.1:p.Val351Met | |
| NM_001351510.1:c.1042G>A (TIA1) | NP_001338439.1:p.Val348Met | |
| NM_001351511.1:c.967G>A (TIA1) | NP_001338440.1:p.Val323Met | |
| NM_001351512.1:c.940G>A (TIA1) | NP_001338441.1:p.Val314Met | |
| NM_001351513.1:c.934G>A (TIA1) | NP_001338442.1:p.Val312Met | |
| NM_001351514.1:c.850G>A (TIA1) | NP_001338443.1:p.Val284Met | |
| NM_001351515.1:c.775G>A (TIA1) | NP_001338444.1:p.Val259Met | |
| NM_001351517.1:c.655G>A (TIA1) | NP_001338446.1:p.Val219Met | |
| NM_001351524.1:c.658G>A (TIA1) | NP_001338453.1:p.Val220Met | |
| NM_001351525.1:c.658G>A (TIA1) | NP_001338454.1:p.Val220Met | |
| NM_022037.3:c.1045G>A (TIA1) | NP_071320.2:p.Val349Met | |
| NM_022173.3:c.1078G>A (TIA1) | NP_071505.2:p.Val360Met | |
| NR_147216.1:n.1435G>A (TIA1) | ||
| NR_147217.1:n.1316G>A (TIA1) | ||
| NR_147218.1:n.1313G>A (TIA1) | ||
| NR_147219.1:n.1550G>A (TIA1) | ||
| NR_147220.1:n.1536G>A (TIA1) | ||
| NR_147221.1:n.1607G>A (TIA1) | ||
| NR_147222.1:n.1602G>A (TIA1) | ||
| NR_147223.1:n.1660G>A (TIA1) | ||
| NR_147224.1:n.1538G>A (TIA1) | ||
| NR_147225.1:n.1693G>A (TIA1) | ||
| NR_147226.1:n.1541G>A (TIA1) | ||
| NR_147227.1:n.1611G>A (TIA1) | ||
| NR_147228.1:n.1574G>A (TIA1) | ||
| NR_147229.1:n.1517G>A (TIA1) | ||
| NR_147230.1:n.1759G>A (TIA1) | ||
| NR_147231.1:n.1571G>A (TIA1) | ||
| NR_147232.1:n.1444G>A (TIA1) | ||
| XM_005264528.5:c.883G>A (TIA1) | XP_005264585.1:p.Val295Met | |
| XM_005264531.2:c.775G>A (TIA1) | XP_005264588.1:p.Val259Met | |
| XM_011533082.2:c.778G>A (TIA1) | XP_011531384.1:p.Val260Met | |
| XM_017004792.1:c.778G>A (TIA1) | XP_016860281.1:p.Val260Met | |
| XM_017004793.2:c.778G>A (TIA1) | XP_016860282.1:p.Val260Met | |
| XM_017004794.1:c.778G>A (TIA1) | XP_016860283.1:p.Val260Met | |
| XM_017004795.1:c.775G>A (TIA1) | XP_016860284.1:p.Val259Met | |
| XM_017004796.1:c.658G>A (TIA1) | XP_016860285.1:p.Val220Met | |
| XM_017004800.1:c.658G>A (TIA1) | XP_016860289.1:p.Val220Met | |
| XM_024453063.1:c.658G>A (TIA1) | XP_024308831.1:p.Val220Met | |
| XM_024453064.1:c.658G>A (TIA1) | XP_024308832.1:p.Val220Met | |
| XM_024453065.1:c.658G>A (TIA1) | XP_024308833.1:p.Val220Met | |
| XM_024453066.1:c.658G>A (TIA1) | XP_024308834.1:p.Val220Met | |
| XM_024453067.1:c.655G>A (TIA1) | XP_024308835.1:p.Val219Met | |
| XR_002959329.1:n.4662G>A (TIA1) | ||
| XR_002959330.1:n.2496G>A (TIA1) | ||
| XR_002959331.1:n.4659G>A (TIA1) | ||
| XR_002959332.1:n.2202G>A (TIA1) | ||
| NM_022173.4:c.1078G>A (TIA1) MANE Select | NP_071505.2:p.Val360Met | |
| NM_001351508.2:c.1075G>A (TIA1) | NP_001338437.1:p.Val359Met | |
| NM_001351509.2:c.1051G>A (TIA1) | NP_001338438.1:p.Val351Met | |
| NM_001351510.2:c.1042G>A (TIA1) | NP_001338439.1:p.Val348Met | |
| NM_001351514.2:c.850G>A (TIA1) | NP_001338443.1:p.Val284Met | |
| NM_001351515.2:c.775G>A (TIA1) | NP_001338444.1:p.Val259Met | |
| NM_001351517.2:c.655G>A (TIA1) | NP_001338446.1:p.Val219Met | |
| NM_001351524.2:c.658G>A (TIA1) | NP_001338453.1:p.Val220Met | |
| NM_001351525.2:c.658G>A (TIA1) | NP_001338454.1:p.Val220Met | |
| NM_022037.4:c.1045G>A (TIA1) | NP_071320.2:p.Val349Met | |
| NR_147219.2:n.1385G>A (TIA1) | ||
| NR_147220.2:n.1371G>A (TIA1) | ||
| NR_147221.2:n.1442G>A (TIA1) | ||
| NR_147222.2:n.1437G>A (TIA1) | ||
| NR_147223.2:n.1495G>A (TIA1) | ||
| NR_147224.2:n.1373G>A (TIA1) | ||
| NR_147225.2:n.1528G>A (TIA1) | ||
| NR_147226.2:n.1376G>A (TIA1) | ||
| NR_147227.2:n.1446G>A (TIA1) | ||
| NR_147228.2:n.1409G>A (TIA1) | ||
| NR_147229.2:n.1352G>A (TIA1) | ||
| NR_147230.2:n.1594G>A (TIA1) | ||
| NR_147231.2:n.1406G>A (TIA1) | ||
| NR_147232.2:n.1279G>A (TIA1) |