Canonical Allele Identifier: CA1697432
Community Standard Title: NM_022173.4(TIA1):c.985G>A (p.Val329Ile)
Gene: TIA1 HGNC NCBI
C2orf42 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70214398C>T , CM000664.2:g.70214398C>T GRCh38
NC_000002.11:g.70441530C>T , CM000664.1:g.70441530C>T GRCh37
NC_000002.10:g.70295034C>T NCBI36
NG_029967.1:g.39250G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022173.4:c.985G>A (TIA1) MANE Select NP_071505.2:p.Val329Ile
ENST00000433529.7:c.985G>A (TIA1) MANE Select ENSP00000401371.2:p.Val329Ile
NM_001351508.1:c.982G>A (TIA1) NP_001338437.1:p.Val328Ile
NM_001351508.2:c.982G>A (TIA1) NP_001338437.1:p.Val328Ile
NM_001351509.1:c.958G>A (TIA1) NP_001338438.1:p.Val320Ile
NM_001351509.2:c.958G>A (TIA1) NP_001338438.1:p.Val320Ile
NM_001351510.1:c.949G>A (TIA1) NP_001338439.1:p.Val317Ile
NM_001351510.2:c.949G>A (TIA1) NP_001338439.1:p.Val317Ile
NM_001351511.1:c.874G>A (TIA1) NP_001338440.1:p.Val292Ile
NM_001351512.1:c.847G>A (TIA1) NP_001338441.1:p.Val283Ile
NM_001351513.1:c.841G>A (TIA1) NP_001338442.1:p.Val281Ile
NM_001351514.1:c.757G>A (TIA1) NP_001338443.1:p.Val253Ile
NM_001351514.2:c.757G>A (TIA1) NP_001338443.1:p.Val253Ile
NM_001351515.1:c.682G>A (TIA1) NP_001338444.1:p.Val228Ile
NM_001351515.2:c.682G>A (TIA1) NP_001338444.1:p.Val228Ile
NM_001351517.1:c.562G>A (TIA1) NP_001338446.1:p.Val188Ile
NM_001351517.2:c.562G>A (TIA1) NP_001338446.1:p.Val188Ile
NM_001351524.1:c.565G>A (TIA1) NP_001338453.1:p.Val189Ile
NM_001351524.2:c.565G>A (TIA1) NP_001338453.1:p.Val189Ile
NM_001351525.1:c.565G>A (TIA1) NP_001338454.1:p.Val189Ile
NM_001351525.2:c.565G>A (TIA1) NP_001338454.1:p.Val189Ile
NM_022037.2:c.952G>A (TIA1) NP_071320.2:p.Val318Ile
NM_022037.3:c.952G>A (TIA1) NP_071320.2:p.Val318Ile
NM_022037.4:c.952G>A (TIA1) NP_071320.2:p.Val318Ile
NM_022173.2:c.985G>A (TIA1) NP_071505.2:p.Val329Ile
NM_022173.3:c.985G>A (TIA1) NP_071505.2:p.Val329Ile
NR_147216.1:n.1342G>A (TIA1)
NR_147217.1:n.1223G>A (TIA1)
NR_147218.1:n.1220G>A (TIA1)
NR_147219.1:n.1457G>A (TIA1)
NR_147219.2:n.1292G>A (TIA1)
NR_147220.1:n.1443G>A (TIA1)
NR_147220.2:n.1278G>A (TIA1)
NR_147221.1:n.1514G>A (TIA1)
NR_147221.2:n.1349G>A (TIA1)
NR_147222.1:n.1509G>A (TIA1)
NR_147222.2:n.1344G>A (TIA1)
NR_147223.1:n.1567G>A (TIA1)
NR_147223.2:n.1402G>A (TIA1)
NR_147224.1:n.1445G>A (TIA1)
NR_147224.2:n.1280G>A (TIA1)
NR_147225.1:n.1600G>A (TIA1)
NR_147225.2:n.1435G>A (TIA1)
NR_147226.1:n.1448G>A (TIA1)
NR_147226.2:n.1283G>A (TIA1)
NR_147227.1:n.1518G>A (TIA1)
NR_147227.2:n.1353G>A (TIA1)
NR_147228.1:n.1481G>A (TIA1)
NR_147228.2:n.1316G>A (TIA1)
NR_147229.1:n.1424G>A (TIA1)
NR_147229.2:n.1259G>A (TIA1)
NR_147230.1:n.1666G>A (TIA1)
NR_147230.2:n.1501G>A (TIA1)
NR_147231.1:n.1478G>A (TIA1)
NR_147231.2:n.1313G>A (TIA1)
NR_147232.1:n.1351G>A (TIA1)
NR_147232.2:n.1186G>A (TIA1)
ENST00000282574.8:c.982G>A (TIA1) ENSP00000282574.4:p.Val328Ile
ENST00000415783.6:c.952G>A (TIA1) ENSP00000404023.2:p.Val318Ile
ENST00000433529.6:c.985G>A (TIA1) ENSP00000401371.2:p.Val329Ile
ENST00000445587.5:c.732-1553G>A (TIA1) ENSP00000399567.1:n.732-1553G>A
ENST00000454815.6:c.298G>A (TIA1) ENSP00000402263.2:p.Val100Ile
ENST00000468787.5:n.491G>A (TIA1)
ENST00000470096.1:n.212-32401G>A (C2orf42)
ENST00000486392.5:n.295G>A (TIA1)
ENST00000495774.1:n.387G>A (TIA1)
XM_005264527.1:c.949G>A (TIA1) XP_005264584.1:p.Val317Ile
XM_005264528.3:c.790G>A (TIA1) XP_005264585.1:p.Val264Ile
XM_005264528.5:c.790G>A (TIA1) XP_005264585.1:p.Val264Ile
XM_005264531.1:c.682G>A (TIA1) XP_005264588.1:p.Val228Ile
XM_005264531.2:c.682G>A (TIA1) XP_005264588.1:p.Val228Ile
XM_011533077.1:c.982G>A (TIA1) XP_011531379.1:p.Val328Ile
XM_011533078.1:c.685G>A (TIA1) XP_011531380.1:p.Val229Ile
XM_011533079.1:c.685G>A (TIA1) XP_011531381.1:p.Val229Ile
XM_011533080.1:c.685G>A (TIA1) XP_011531382.1:p.Val229Ile
XM_011533081.1:c.685G>A (TIA1) XP_011531383.1:p.Val229Ile
XM_011533082.1:c.685G>A (TIA1) XP_011531384.1:p.Val229Ile
XM_011533082.2:c.685G>A (TIA1) XP_011531384.1:p.Val229Ile
XM_011533083.1:c.565G>A (TIA1) XP_011531385.1:p.Val189Ile
XM_017004792.1:c.685G>A (TIA1) XP_016860281.1:p.Val229Ile
XM_017004793.2:c.685G>A (TIA1) XP_016860282.1:p.Val229Ile
XM_017004794.1:c.685G>A (TIA1) XP_016860283.1:p.Val229Ile
XM_017004795.1:c.682G>A (TIA1) XP_016860284.1:p.Val228Ile
XM_017004796.1:c.565G>A (TIA1) XP_016860285.1:p.Val189Ile
XM_017004800.1:c.565G>A (TIA1) XP_016860289.1:p.Val189Ile
XM_024453063.1:c.565G>A (TIA1) XP_024308831.1:p.Val189Ile
XM_024453064.1:c.565G>A (TIA1) XP_024308832.1:p.Val189Ile
XM_024453065.1:c.565G>A (TIA1) XP_024308833.1:p.Val189Ile
XM_024453066.1:c.565G>A (TIA1) XP_024308834.1:p.Val189Ile
XM_024453067.1:c.562G>A (TIA1) XP_024308835.1:p.Val188Ile
XR_002959329.1:n.4569G>A (TIA1)
XR_002959330.1:n.2403G>A (TIA1)
XR_002959331.1:n.4566G>A (TIA1)
XR_002959332.1:n.2109G>A (TIA1)
XR_244955.1:n.1342G>A (TIA1)
XR_939714.1:n.1321G>A (TIA1)