Canonical Allele Identifier: CA347149384
Gene: TIA1 HGNC NCBI
C2orf42 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70212821C>A , CM000664.2:g.70212821C>A GRCh38
NC_000002.11:g.70439953C>A , CM000664.1:g.70439953C>A GRCh37
NC_000002.10:g.70293457C>A NCBI36
NG_029967.1:g.40827G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433529.7:c.1059G>T (TIA1) MANE Select ENSP00000401371.2:p.Trp353Cys
ENST00000282574.8:c.1056G>T (TIA1) ENSP00000282574.4:p.Trp352Cys
ENST00000415783.6:c.1026G>T (TIA1) ENSP00000404023.2:p.Trp342Cys
ENST00000433529.6:c.1059G>T (TIA1) ENSP00000401371.2:p.Trp353Cys
ENST00000445587.5:c.756G>T (TIA1) ENSP00000399567.1:p.Trp252Cys
ENST00000470096.1:n.212-30824G>T (C2orf42)
ENST00000486392.5:n.369G>T (TIA1)
ENST00000495774.1:n.461G>T (TIA1)
NM_022037.2:c.1026G>T (TIA1) NP_071320.2:p.Trp342Cys
NM_022173.2:c.1059G>T (TIA1) NP_071505.2:p.Trp353Cys
XM_005264527.1:c.1023G>T (TIA1) XP_005264584.1:p.Trp341Cys
XM_005264528.3:c.864G>T (TIA1) XP_005264585.1:p.Trp288Cys
XM_005264531.1:c.756G>T (TIA1) XP_005264588.1:p.Trp252Cys
XM_011533077.1:c.1056G>T (TIA1) XP_011531379.1:p.Trp352Cys
XM_011533078.1:c.759G>T (TIA1) XP_011531380.1:p.Trp253Cys
XM_011533079.1:c.759G>T (TIA1) XP_011531381.1:p.Trp253Cys
XM_011533080.1:c.759G>T (TIA1) XP_011531382.1:p.Trp253Cys
XM_011533081.1:c.759G>T (TIA1) XP_011531383.1:p.Trp253Cys
XM_011533082.1:c.759G>T (TIA1) XP_011531384.1:p.Trp253Cys
XM_011533083.1:c.639G>T (TIA1) XP_011531385.1:p.Trp213Cys
XR_244955.1:n.1416G>T (TIA1)
XR_939714.1:n.1395G>T (TIA1)
NM_001351508.1:c.1056G>T (TIA1) NP_001338437.1:p.Trp352Cys
NM_001351509.1:c.1032G>T (TIA1) NP_001338438.1:p.Trp344Cys
NM_001351510.1:c.1023G>T (TIA1) NP_001338439.1:p.Trp341Cys
NM_001351511.1:c.948G>T (TIA1) NP_001338440.1:p.Trp316Cys
NM_001351512.1:c.921G>T (TIA1) NP_001338441.1:p.Trp307Cys
NM_001351513.1:c.915G>T (TIA1) NP_001338442.1:p.Trp305Cys
NM_001351514.1:c.831G>T (TIA1) NP_001338443.1:p.Trp277Cys
NM_001351515.1:c.756G>T (TIA1) NP_001338444.1:p.Trp252Cys
NM_001351517.1:c.636G>T (TIA1) NP_001338446.1:p.Trp212Cys
NM_001351524.1:c.639G>T (TIA1) NP_001338453.1:p.Trp213Cys
NM_001351525.1:c.639G>T (TIA1) NP_001338454.1:p.Trp213Cys
NM_022037.3:c.1026G>T (TIA1) NP_071320.2:p.Trp342Cys
NM_022173.3:c.1059G>T (TIA1) NP_071505.2:p.Trp353Cys
NR_147216.1:n.1416G>T (TIA1)
NR_147217.1:n.1297G>T (TIA1)
NR_147218.1:n.1294G>T (TIA1)
NR_147219.1:n.1531G>T (TIA1)
NR_147220.1:n.1517G>T (TIA1)
NR_147221.1:n.1588G>T (TIA1)
NR_147222.1:n.1583G>T (TIA1)
NR_147223.1:n.1641G>T (TIA1)
NR_147224.1:n.1519G>T (TIA1)
NR_147225.1:n.1674G>T (TIA1)
NR_147226.1:n.1522G>T (TIA1)
NR_147227.1:n.1592G>T (TIA1)
NR_147228.1:n.1555G>T (TIA1)
NR_147229.1:n.1498G>T (TIA1)
NR_147230.1:n.1740G>T (TIA1)
NR_147231.1:n.1552G>T (TIA1)
NR_147232.1:n.1425G>T (TIA1)
XM_005264528.5:c.864G>T (TIA1) XP_005264585.1:p.Trp288Cys
XM_005264531.2:c.756G>T (TIA1) XP_005264588.1:p.Trp252Cys
XM_011533082.2:c.759G>T (TIA1) XP_011531384.1:p.Trp253Cys
XM_017004792.1:c.759G>T (TIA1) XP_016860281.1:p.Trp253Cys
XM_017004793.2:c.759G>T (TIA1) XP_016860282.1:p.Trp253Cys
XM_017004794.1:c.759G>T (TIA1) XP_016860283.1:p.Trp253Cys
XM_017004795.1:c.756G>T (TIA1) XP_016860284.1:p.Trp252Cys
XM_017004796.1:c.639G>T (TIA1) XP_016860285.1:p.Trp213Cys
XM_017004800.1:c.639G>T (TIA1) XP_016860289.1:p.Trp213Cys
XM_024453063.1:c.639G>T (TIA1) XP_024308831.1:p.Trp213Cys
XM_024453064.1:c.639G>T (TIA1) XP_024308832.1:p.Trp213Cys
XM_024453065.1:c.639G>T (TIA1) XP_024308833.1:p.Trp213Cys
XM_024453066.1:c.639G>T (TIA1) XP_024308834.1:p.Trp213Cys
XM_024453067.1:c.636G>T (TIA1) XP_024308835.1:p.Trp212Cys
XR_002959329.1:n.4643G>T (TIA1)
XR_002959330.1:n.2477G>T (TIA1)
XR_002959331.1:n.4640G>T (TIA1)
XR_002959332.1:n.2183G>T (TIA1)
NM_022173.4:c.1059G>T (TIA1) MANE Select NP_071505.2:p.Trp353Cys
NM_001351508.2:c.1056G>T (TIA1) NP_001338437.1:p.Trp352Cys
NM_001351509.2:c.1032G>T (TIA1) NP_001338438.1:p.Trp344Cys
NM_001351510.2:c.1023G>T (TIA1) NP_001338439.1:p.Trp341Cys
NM_001351514.2:c.831G>T (TIA1) NP_001338443.1:p.Trp277Cys
NM_001351515.2:c.756G>T (TIA1) NP_001338444.1:p.Trp252Cys
NM_001351517.2:c.636G>T (TIA1) NP_001338446.1:p.Trp212Cys
NM_001351524.2:c.639G>T (TIA1) NP_001338453.1:p.Trp213Cys
NM_001351525.2:c.639G>T (TIA1) NP_001338454.1:p.Trp213Cys
NM_022037.4:c.1026G>T (TIA1) NP_071320.2:p.Trp342Cys
NR_147219.2:n.1366G>T (TIA1)
NR_147220.2:n.1352G>T (TIA1)
NR_147221.2:n.1423G>T (TIA1)
NR_147222.2:n.1418G>T (TIA1)
NR_147223.2:n.1476G>T (TIA1)
NR_147224.2:n.1354G>T (TIA1)
NR_147225.2:n.1509G>T (TIA1)
NR_147226.2:n.1357G>T (TIA1)
NR_147227.2:n.1427G>T (TIA1)
NR_147228.2:n.1390G>T (TIA1)
NR_147229.2:n.1333G>T (TIA1)
NR_147230.2:n.1575G>T (TIA1)
NR_147231.2:n.1387G>T (TIA1)
NR_147232.2:n.1260G>T (TIA1)