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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70212807T= , CM000664.2:g.70212807T= | GRCh38 |
| NC_000002.11:g.70439939T= , CM000664.1:g.70439939T= | GRCh37 |
| NC_000002.10:g.70293443T= | NCBI36 |
| NG_029967.1:g.40841A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433529.7:c.1073A= (TIA1) MANE Select | ENSP00000401371.2:p.Tyr358= | |
| ENST00000282574.8:c.1070A= (TIA1) | ENSP00000282574.4:p.Tyr357= | |
| ENST00000415783.6:c.1040A= (TIA1) | ENSP00000404023.2:p.Tyr347= | |
| ENST00000433529.6:c.1073A= (TIA1) | ENSP00000401371.2:p.Tyr358= | |
| ENST00000445587.5:c.770A= (TIA1) | ENSP00000399567.1:p.Tyr257= | |
| ENST00000470096.1:n.212-30810A= (C2orf42) | ||
| ENST00000486392.5:n.383A= (TIA1) | ||
| ENST00000495774.1:n.475A= (TIA1) | ||
| NM_022037.2:c.1040A= (TIA1) | NP_071320.2:p.Tyr347= | |
| NM_022173.2:c.1073A= (TIA1) | NP_071505.2:p.Tyr358= | |
| XM_005264527.1:c.1037A= (TIA1) | XP_005264584.1:p.Tyr346= | |
| XM_005264528.3:c.878A= (TIA1) | XP_005264585.1:p.Tyr293= | |
| XM_005264531.1:c.770A= (TIA1) | XP_005264588.1:p.Tyr257= | |
| XM_011533077.1:c.1070A= (TIA1) | XP_011531379.1:p.Tyr357= | |
| XM_011533078.1:c.773A= (TIA1) | XP_011531380.1:p.Tyr258= | |
| XM_011533079.1:c.773A= (TIA1) | XP_011531381.1:p.Tyr258= | |
| XM_011533080.1:c.773A= (TIA1) | XP_011531382.1:p.Tyr258= | |
| XM_011533081.1:c.773A= (TIA1) | XP_011531383.1:p.Tyr258= | |
| XM_011533082.1:c.773A= (TIA1) | XP_011531384.1:p.Tyr258= | |
| XM_011533083.1:c.653A= (TIA1) | XP_011531385.1:p.Tyr218= | |
| XR_244955.1:n.1430A= (TIA1) | ||
| XR_939714.1:n.1409A= (TIA1) | ||
| NM_001351508.1:c.1070A= (TIA1) | NP_001338437.1:p.Tyr357= | |
| NM_001351509.1:c.1046A= (TIA1) | NP_001338438.1:p.Tyr349= | |
| NM_001351510.1:c.1037A= (TIA1) | NP_001338439.1:p.Tyr346= | |
| NM_001351511.1:c.962A= (TIA1) | NP_001338440.1:p.Tyr321= | |
| NM_001351512.1:c.935A= (TIA1) | NP_001338441.1:p.Tyr312= | |
| NM_001351513.1:c.929A= (TIA1) | NP_001338442.1:p.Tyr310= | |
| NM_001351514.1:c.845A= (TIA1) | NP_001338443.1:p.Tyr282= | |
| NM_001351515.1:c.770A= (TIA1) | NP_001338444.1:p.Tyr257= | |
| NM_001351517.1:c.650A= (TIA1) | NP_001338446.1:p.Tyr217= | |
| NM_001351524.1:c.653A= (TIA1) | NP_001338453.1:p.Tyr218= | |
| NM_001351525.1:c.653A= (TIA1) | NP_001338454.1:p.Tyr218= | |
| NM_022037.3:c.1040A= (TIA1) | NP_071320.2:p.Tyr347= | |
| NM_022173.3:c.1073A= (TIA1) | NP_071505.2:p.Tyr358= | |
| NR_147216.1:n.1430A= (TIA1) | ||
| NR_147217.1:n.1311A= (TIA1) | ||
| NR_147218.1:n.1308A= (TIA1) | ||
| NR_147219.1:n.1545A= (TIA1) | ||
| NR_147220.1:n.1531A= (TIA1) | ||
| NR_147221.1:n.1602A= (TIA1) | ||
| NR_147222.1:n.1597A= (TIA1) | ||
| NR_147223.1:n.1655A= (TIA1) | ||
| NR_147224.1:n.1533A= (TIA1) | ||
| NR_147225.1:n.1688A= (TIA1) | ||
| NR_147226.1:n.1536A= (TIA1) | ||
| NR_147227.1:n.1606A= (TIA1) | ||
| NR_147228.1:n.1569A= (TIA1) | ||
| NR_147229.1:n.1512A= (TIA1) | ||
| NR_147230.1:n.1754A= (TIA1) | ||
| NR_147231.1:n.1566A= (TIA1) | ||
| NR_147232.1:n.1439A= (TIA1) | ||
| XM_005264528.5:c.878A= (TIA1) | XP_005264585.1:p.Tyr293= | |
| XM_005264531.2:c.770A= (TIA1) | XP_005264588.1:p.Tyr257= | |
| XM_011533082.2:c.773A= (TIA1) | XP_011531384.1:p.Tyr258= | |
| XM_017004792.1:c.773A= (TIA1) | XP_016860281.1:p.Tyr258= | |
| XM_017004793.2:c.773A= (TIA1) | XP_016860282.1:p.Tyr258= | |
| XM_017004794.1:c.773A= (TIA1) | XP_016860283.1:p.Tyr258= | |
| XM_017004795.1:c.770A= (TIA1) | XP_016860284.1:p.Tyr257= | |
| XM_017004796.1:c.653A= (TIA1) | XP_016860285.1:p.Tyr218= | |
| XM_017004800.1:c.653A= (TIA1) | XP_016860289.1:p.Tyr218= | |
| XM_024453063.1:c.653A= (TIA1) | XP_024308831.1:p.Tyr218= | |
| XM_024453064.1:c.653A= (TIA1) | XP_024308832.1:p.Tyr218= | |
| XM_024453065.1:c.653A= (TIA1) | XP_024308833.1:p.Tyr218= | |
| XM_024453066.1:c.653A= (TIA1) | XP_024308834.1:p.Tyr218= | |
| XM_024453067.1:c.650A= (TIA1) | XP_024308835.1:p.Tyr217= | |
| XR_002959329.1:n.4657A= (TIA1) | ||
| XR_002959330.1:n.2491A= (TIA1) | ||
| XR_002959331.1:n.4654A= (TIA1) | ||
| XR_002959332.1:n.2197A= (TIA1) | ||
| NM_022173.4:c.1073A= (TIA1) MANE Select | NP_071505.2:p.Tyr358= | |
| NM_001351508.2:c.1070A= (TIA1) | NP_001338437.1:p.Tyr357= | |
| NM_001351509.2:c.1046A= (TIA1) | NP_001338438.1:p.Tyr349= | |
| NM_001351510.2:c.1037A= (TIA1) | NP_001338439.1:p.Tyr346= | |
| NM_001351514.2:c.845A= (TIA1) | NP_001338443.1:p.Tyr282= | |
| NM_001351515.2:c.770A= (TIA1) | NP_001338444.1:p.Tyr257= | |
| NM_001351517.2:c.650A= (TIA1) | NP_001338446.1:p.Tyr217= | |
| NM_001351524.2:c.653A= (TIA1) | NP_001338453.1:p.Tyr218= | |
| NM_001351525.2:c.653A= (TIA1) | NP_001338454.1:p.Tyr218= | |
| NM_022037.4:c.1040A= (TIA1) | NP_071320.2:p.Tyr347= | |
| NR_147219.2:n.1380A= (TIA1) | ||
| NR_147220.2:n.1366A= (TIA1) | ||
| NR_147221.2:n.1437A= (TIA1) | ||
| NR_147222.2:n.1432A= (TIA1) | ||
| NR_147223.2:n.1490A= (TIA1) | ||
| NR_147224.2:n.1368A= (TIA1) | ||
| NR_147225.2:n.1523A= (TIA1) | ||
| NR_147226.2:n.1371A= (TIA1) | ||
| NR_147227.2:n.1441A= (TIA1) | ||
| NR_147228.2:n.1404A= (TIA1) | ||
| NR_147229.2:n.1347A= (TIA1) | ||
| NR_147230.2:n.1589A= (TIA1) | ||
| NR_147231.2:n.1401A= (TIA1) | ||
| NR_147232.2:n.1274A= (TIA1) |