Canonical Allele Identifier: CA1697442
Community Standard Title: NM_022173.4(TIA1):c.918T>C (p.Tyr306=)
Gene: TIA1 HGNC NCBI
C2orf42 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70214465A>G , CM000664.2:g.70214465A>G GRCh38
NC_000002.11:g.70441597A>G , CM000664.1:g.70441597A>G GRCh37
NC_000002.10:g.70295101A>G NCBI36
NG_029967.1:g.39183T>C

Transcript Alleles

HGVS Amino-acid Change
NM_022173.4:c.918T>C (TIA1) MANE Select NP_071505.2:p.Tyr306=
ENST00000433529.7:c.918T>C (TIA1) MANE Select ENSP00000401371.2:p.Tyr306=
NM_001351508.1:c.915T>C (TIA1) NP_001338437.1:p.Tyr305=
NM_001351508.2:c.915T>C (TIA1) NP_001338437.1:p.Tyr305=
NM_001351509.1:c.891T>C (TIA1) NP_001338438.1:p.Tyr297=
NM_001351509.2:c.891T>C (TIA1) NP_001338438.1:p.Tyr297=
NM_001351510.1:c.882T>C (TIA1) NP_001338439.1:p.Tyr294=
NM_001351510.2:c.882T>C (TIA1) NP_001338439.1:p.Tyr294=
NM_001351511.1:c.807T>C (TIA1) NP_001338440.1:p.Tyr269=
NM_001351512.1:c.780T>C (TIA1) NP_001338441.1:p.Tyr260=
NM_001351513.1:c.774T>C (TIA1) NP_001338442.1:p.Tyr258=
NM_001351514.1:c.690T>C (TIA1) NP_001338443.1:p.Tyr230=
NM_001351514.2:c.690T>C (TIA1) NP_001338443.1:p.Tyr230=
NM_001351515.1:c.615T>C (TIA1) NP_001338444.1:p.Tyr205=
NM_001351515.2:c.615T>C (TIA1) NP_001338444.1:p.Tyr205=
NM_001351517.1:c.495T>C (TIA1) NP_001338446.1:p.Tyr165=
NM_001351517.2:c.495T>C (TIA1) NP_001338446.1:p.Tyr165=
NM_001351524.1:c.498T>C (TIA1) NP_001338453.1:p.Tyr166=
NM_001351524.2:c.498T>C (TIA1) NP_001338453.1:p.Tyr166=
NM_001351525.1:c.498T>C (TIA1) NP_001338454.1:p.Tyr166=
NM_001351525.2:c.498T>C (TIA1) NP_001338454.1:p.Tyr166=
NM_022037.2:c.885T>C (TIA1) NP_071320.2:p.Tyr295=
NM_022037.3:c.885T>C (TIA1) NP_071320.2:p.Tyr295=
NM_022037.4:c.885T>C (TIA1) NP_071320.2:p.Tyr295=
NM_022173.2:c.918T>C (TIA1) NP_071505.2:p.Tyr306=
NM_022173.3:c.918T>C (TIA1) NP_071505.2:p.Tyr306=
NR_147216.1:n.1275T>C (TIA1)
NR_147217.1:n.1156T>C (TIA1)
NR_147218.1:n.1153T>C (TIA1)
NR_147219.1:n.1390T>C (TIA1)
NR_147219.2:n.1225T>C (TIA1)
NR_147220.1:n.1376T>C (TIA1)
NR_147220.2:n.1211T>C (TIA1)
NR_147221.1:n.1447T>C (TIA1)
NR_147221.2:n.1282T>C (TIA1)
NR_147222.1:n.1442T>C (TIA1)
NR_147222.2:n.1277T>C (TIA1)
NR_147223.1:n.1500T>C (TIA1)
NR_147223.2:n.1335T>C (TIA1)
NR_147224.1:n.1378T>C (TIA1)
NR_147224.2:n.1213T>C (TIA1)
NR_147225.1:n.1533T>C (TIA1)
NR_147225.2:n.1368T>C (TIA1)
NR_147226.1:n.1381T>C (TIA1)
NR_147226.2:n.1216T>C (TIA1)
NR_147227.1:n.1451T>C (TIA1)
NR_147227.2:n.1286T>C (TIA1)
NR_147228.1:n.1414T>C (TIA1)
NR_147228.2:n.1249T>C (TIA1)
NR_147229.1:n.1357T>C (TIA1)
NR_147229.2:n.1192T>C (TIA1)
NR_147230.1:n.1599T>C (TIA1)
NR_147230.2:n.1434T>C (TIA1)
NR_147231.1:n.1411T>C (TIA1)
NR_147231.2:n.1246T>C (TIA1)
NR_147232.1:n.1284T>C (TIA1)
NR_147232.2:n.1119T>C (TIA1)
ENST00000282574.8:c.915T>C (TIA1) ENSP00000282574.4:p.Tyr305=
ENST00000415783.6:c.885T>C (TIA1) ENSP00000404023.2:p.Tyr295=
ENST00000433529.6:c.918T>C (TIA1) ENSP00000401371.2:p.Tyr306=
ENST00000445587.5:c.732-1620T>C (TIA1) ENSP00000399567.1:n.732-1620T>C
ENST00000454815.6:c.231T>C (TIA1) ENSP00000402263.2:p.Tyr77=
ENST00000468787.5:n.424T>C (TIA1)
ENST00000470096.1:n.212-32468T>C (C2orf42)
ENST00000486392.5:n.228T>C (TIA1)
ENST00000495774.1:n.320T>C (TIA1)
XM_005264527.1:c.882T>C (TIA1) XP_005264584.1:p.Tyr294=
XM_005264528.3:c.723T>C (TIA1) XP_005264585.1:p.Tyr241=
XM_005264528.5:c.723T>C (TIA1) XP_005264585.1:p.Tyr241=
XM_005264531.1:c.615T>C (TIA1) XP_005264588.1:p.Tyr205=
XM_005264531.2:c.615T>C (TIA1) XP_005264588.1:p.Tyr205=
XM_011533077.1:c.915T>C (TIA1) XP_011531379.1:p.Tyr305=
XM_011533078.1:c.618T>C (TIA1) XP_011531380.1:p.Tyr206=
XM_011533079.1:c.618T>C (TIA1) XP_011531381.1:p.Tyr206=
XM_011533080.1:c.618T>C (TIA1) XP_011531382.1:p.Tyr206=
XM_011533081.1:c.618T>C (TIA1) XP_011531383.1:p.Tyr206=
XM_011533082.1:c.618T>C (TIA1) XP_011531384.1:p.Tyr206=
XM_011533082.2:c.618T>C (TIA1) XP_011531384.1:p.Tyr206=
XM_011533083.1:c.498T>C (TIA1) XP_011531385.1:p.Tyr166=
XM_017004792.1:c.618T>C (TIA1) XP_016860281.1:p.Tyr206=
XM_017004793.2:c.618T>C (TIA1) XP_016860282.1:p.Tyr206=
XM_017004794.1:c.618T>C (TIA1) XP_016860283.1:p.Tyr206=
XM_017004795.1:c.615T>C (TIA1) XP_016860284.1:p.Tyr205=
XM_017004796.1:c.498T>C (TIA1) XP_016860285.1:p.Tyr166=
XM_017004800.1:c.498T>C (TIA1) XP_016860289.1:p.Tyr166=
XM_024453063.1:c.498T>C (TIA1) XP_024308831.1:p.Tyr166=
XM_024453064.1:c.498T>C (TIA1) XP_024308832.1:p.Tyr166=
XM_024453065.1:c.498T>C (TIA1) XP_024308833.1:p.Tyr166=
XM_024453066.1:c.498T>C (TIA1) XP_024308834.1:p.Tyr166=
XM_024453067.1:c.495T>C (TIA1) XP_024308835.1:p.Tyr165=
XR_002959329.1:n.4502T>C (TIA1)
XR_002959330.1:n.2336T>C (TIA1)
XR_002959331.1:n.4499T>C (TIA1)
XR_002959332.1:n.2042T>C (TIA1)
XR_244955.1:n.1275T>C (TIA1)
XR_939714.1:n.1254T>C (TIA1)
XR_939715.1:n.1278T>C (TIA1)