Canonical Allele Identifier: CA49625456
Gene: TIA1 HGNC NCBI
C2orf42 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70215438A>G , CM000664.2:g.70215438A>G GRCh38
NC_000002.11:g.70442570A>G , CM000664.1:g.70442570A>G GRCh37
NC_000002.10:g.70296074A>G NCBI36
NG_029967.1:g.38210T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433529.7:c.821T>C (TIA1) MANE Select ENSP00000401371.2:p.Ile274Thr
ENST00000282574.8:c.821T>C (TIA1) ENSP00000282574.4:p.Ile274Thr
ENST00000415783.6:c.788T>C (TIA1) ENSP00000404023.2:p.Ile263Thr
ENST00000433529.6:c.821T>C (TIA1) ENSP00000401371.2:p.Ile274Thr
ENST00000445587.5:c.731+770T>C (TIA1) ENSP00000399567.1:n.731+770T>C
ENST00000454815.6:c.134T>C (TIA1) ENSP00000402263.2:p.Ile45Thr
ENST00000468787.5:n.330T>C (TIA1)
ENST00000470096.1:n.211+32967T>C (C2orf42)
ENST00000482876.5:n.386T>C (TIA1)
ENST00000495774.1:n.223T>C (TIA1)
NM_022037.2:c.788T>C (TIA1) NP_071320.2:p.Ile263Thr
NM_022173.2:c.821T>C (TIA1) NP_071505.2:p.Ile274Thr
XM_005264527.1:c.788T>C (TIA1) XP_005264584.1:p.Ile263Thr
XM_005264528.3:c.626T>C (TIA1) XP_005264585.1:p.Ile209Thr
XM_005264531.1:c.518T>C (TIA1) XP_005264588.1:p.Ile173Thr
XM_011533077.1:c.821T>C (TIA1) XP_011531379.1:p.Ile274Thr
XM_011533078.1:c.521T>C (TIA1) XP_011531380.1:p.Ile174Thr
XM_011533079.1:c.521T>C (TIA1) XP_011531381.1:p.Ile174Thr
XM_011533080.1:c.521T>C (TIA1) XP_011531382.1:p.Ile174Thr
XM_011533081.1:c.521T>C (TIA1) XP_011531383.1:p.Ile174Thr
XM_011533082.1:c.521T>C (TIA1) XP_011531384.1:p.Ile174Thr
XM_011533083.1:c.401T>C (TIA1) XP_011531385.1:p.Ile134Thr
XR_244955.1:n.1181T>C (TIA1)
XR_939714.1:n.1048T>C (TIA1)
XR_939715.1:n.1181T>C (TIA1)
NM_001351508.1:c.821T>C (TIA1) NP_001338437.1:p.Ile274Thr
NM_001351509.1:c.794T>C (TIA1) NP_001338438.1:p.Ile265Thr
NM_001351510.1:c.788T>C (TIA1) NP_001338439.1:p.Ile263Thr
NM_001351511.1:c.710T>C (TIA1) NP_001338440.1:p.Ile237Thr
NM_001351512.1:c.683T>C (TIA1) NP_001338441.1:p.Ile228Thr
NM_001351513.1:c.677T>C (TIA1) NP_001338442.1:p.Ile226Thr
NM_001351514.1:c.593T>C (TIA1) NP_001338443.1:p.Ile198Thr
NM_001351515.1:c.518T>C (TIA1) NP_001338444.1:p.Ile173Thr
NM_001351517.1:c.401T>C (TIA1) NP_001338446.1:p.Ile134Thr
NM_001351524.1:c.401T>C (TIA1) NP_001338453.1:p.Ile134Thr
NM_001351525.1:c.401T>C (TIA1) NP_001338454.1:p.Ile134Thr
NM_022037.3:c.788T>C (TIA1) NP_071320.2:p.Ile263Thr
NM_022173.3:c.821T>C (TIA1) NP_071505.2:p.Ile274Thr
NR_147216.1:n.1178T>C (TIA1)
NR_147217.1:n.1059T>C (TIA1)
NR_147218.1:n.1059T>C (TIA1)
NR_147219.1:n.1184T>C (TIA1)
NR_147220.1:n.1279T>C (TIA1)
NR_147221.1:n.1350T>C (TIA1)
NR_147222.1:n.1345T>C (TIA1)
NR_147223.1:n.1403T>C (TIA1)
NR_147224.1:n.1284T>C (TIA1)
NR_147225.1:n.1436T>C (TIA1)
NR_147226.1:n.1284T>C (TIA1)
NR_147227.1:n.1245T>C (TIA1)
NR_147228.1:n.1317T>C (TIA1)
NR_147229.1:n.1151T>C (TIA1)
NR_147230.1:n.1502T>C (TIA1)
NR_147231.1:n.1317T>C (TIA1)
NR_147232.1:n.1187T>C (TIA1)
XM_005264528.5:c.626T>C (TIA1) XP_005264585.1:p.Ile209Thr
XM_005264531.2:c.518T>C (TIA1) XP_005264588.1:p.Ile173Thr
XM_011533082.2:c.521T>C (TIA1) XP_011531384.1:p.Ile174Thr
XM_017004792.1:c.521T>C (TIA1) XP_016860281.1:p.Ile174Thr
XM_017004793.2:c.521T>C (TIA1) XP_016860282.1:p.Ile174Thr
XM_017004794.1:c.521T>C (TIA1) XP_016860283.1:p.Ile174Thr
XM_017004795.1:c.518T>C (TIA1) XP_016860284.1:p.Ile173Thr
XM_017004796.1:c.401T>C (TIA1) XP_016860285.1:p.Ile134Thr
XM_017004800.1:c.401T>C (TIA1) XP_016860289.1:p.Ile134Thr
XM_024453063.1:c.401T>C (TIA1) XP_024308831.1:p.Ile134Thr
XM_024453064.1:c.401T>C (TIA1) XP_024308832.1:p.Ile134Thr
XM_024453065.1:c.401T>C (TIA1) XP_024308833.1:p.Ile134Thr
XM_024453066.1:c.401T>C (TIA1) XP_024308834.1:p.Ile134Thr
XM_024453067.1:c.401T>C (TIA1) XP_024308835.1:p.Ile134Thr
XR_002959329.1:n.4405T>C (TIA1)
XR_002959330.1:n.2239T>C (TIA1)
XR_002959331.1:n.4405T>C (TIA1)
XR_002959332.1:n.1945T>C (TIA1)
NM_022173.4:c.821T>C (TIA1) MANE Select NP_071505.2:p.Ile274Thr
NM_001351508.2:c.821T>C (TIA1) NP_001338437.1:p.Ile274Thr
NM_001351509.2:c.794T>C (TIA1) NP_001338438.1:p.Ile265Thr
NM_001351510.2:c.788T>C (TIA1) NP_001338439.1:p.Ile263Thr
NM_001351514.2:c.593T>C (TIA1) NP_001338443.1:p.Ile198Thr
NM_001351515.2:c.518T>C (TIA1) NP_001338444.1:p.Ile173Thr
NM_001351517.2:c.401T>C (TIA1) NP_001338446.1:p.Ile134Thr
NM_001351524.2:c.401T>C (TIA1) NP_001338453.1:p.Ile134Thr
NM_001351525.2:c.401T>C (TIA1) NP_001338454.1:p.Ile134Thr
NM_022037.4:c.788T>C (TIA1) NP_071320.2:p.Ile263Thr
NR_147219.2:n.1019T>C (TIA1)
NR_147220.2:n.1114T>C (TIA1)
NR_147221.2:n.1185T>C (TIA1)
NR_147222.2:n.1180T>C (TIA1)
NR_147223.2:n.1238T>C (TIA1)
NR_147224.2:n.1119T>C (TIA1)
NR_147225.2:n.1271T>C (TIA1)
NR_147226.2:n.1119T>C (TIA1)
NR_147227.2:n.1080T>C (TIA1)
NR_147228.2:n.1152T>C (TIA1)
NR_147229.2:n.986T>C (TIA1)
NR_147230.2:n.1337T>C (TIA1)
NR_147231.2:n.1152T>C (TIA1)
NR_147232.2:n.1022T>C (TIA1)