Canonical Allele Identifier: CA1697438
Gene: TIA1 HGNC NCBI
C2orf42 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70214436G>C , CM000664.2:g.70214436G>C GRCh38
NC_000002.11:g.70441568G>C , CM000664.1:g.70441568G>C GRCh37
NC_000002.10:g.70295072G>C NCBI36
NG_029967.1:g.39212C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433529.7:c.947C>G (TIA1) MANE Select ENSP00000401371.2:p.Ala316Gly
ENST00000282574.8:c.944C>G (TIA1) ENSP00000282574.4:p.Ala315Gly
ENST00000415783.6:c.914C>G (TIA1) ENSP00000404023.2:p.Ala305Gly
ENST00000433529.6:c.947C>G (TIA1) ENSP00000401371.2:p.Ala316Gly
ENST00000445587.5:c.732-1591C>G (TIA1) ENSP00000399567.1:n.732-1591C>G
ENST00000454815.6:c.260C>G (TIA1) ENSP00000402263.2:p.Ala87Gly
ENST00000468787.5:n.453C>G (TIA1)
ENST00000470096.1:n.212-32439C>G (C2orf42)
ENST00000486392.5:n.257C>G (TIA1)
ENST00000495774.1:n.349C>G (TIA1)
NM_022037.2:c.914C>G (TIA1) NP_071320.2:p.Ala305Gly
NM_022173.2:c.947C>G (TIA1) NP_071505.2:p.Ala316Gly
XM_005264527.1:c.911C>G (TIA1) XP_005264584.1:p.Ala304Gly
XM_005264528.3:c.752C>G (TIA1) XP_005264585.1:p.Ala251Gly
XM_005264531.1:c.644C>G (TIA1) XP_005264588.1:p.Ala215Gly
XM_011533077.1:c.944C>G (TIA1) XP_011531379.1:p.Ala315Gly
XM_011533078.1:c.647C>G (TIA1) XP_011531380.1:p.Ala216Gly
XM_011533079.1:c.647C>G (TIA1) XP_011531381.1:p.Ala216Gly
XM_011533080.1:c.647C>G (TIA1) XP_011531382.1:p.Ala216Gly
XM_011533081.1:c.647C>G (TIA1) XP_011531383.1:p.Ala216Gly
XM_011533082.1:c.647C>G (TIA1) XP_011531384.1:p.Ala216Gly
XM_011533083.1:c.527C>G (TIA1) XP_011531385.1:p.Ala176Gly
XR_244955.1:n.1304C>G (TIA1)
XR_939714.1:n.1283C>G (TIA1)
NM_001351508.1:c.944C>G (TIA1) NP_001338437.1:p.Ala315Gly
NM_001351509.1:c.920C>G (TIA1) NP_001338438.1:p.Ala307Gly
NM_001351510.1:c.911C>G (TIA1) NP_001338439.1:p.Ala304Gly
NM_001351511.1:c.836C>G (TIA1) NP_001338440.1:p.Ala279Gly
NM_001351512.1:c.809C>G (TIA1) NP_001338441.1:p.Ala270Gly
NM_001351513.1:c.803C>G (TIA1) NP_001338442.1:p.Ala268Gly
NM_001351514.1:c.719C>G (TIA1) NP_001338443.1:p.Ala240Gly
NM_001351515.1:c.644C>G (TIA1) NP_001338444.1:p.Ala215Gly
NM_001351517.1:c.524C>G (TIA1) NP_001338446.1:p.Ala175Gly
NM_001351524.1:c.527C>G (TIA1) NP_001338453.1:p.Ala176Gly
NM_001351525.1:c.527C>G (TIA1) NP_001338454.1:p.Ala176Gly
NM_022037.3:c.914C>G (TIA1) NP_071320.2:p.Ala305Gly
NM_022173.3:c.947C>G (TIA1) NP_071505.2:p.Ala316Gly
NR_147216.1:n.1304C>G (TIA1)
NR_147217.1:n.1185C>G (TIA1)
NR_147218.1:n.1182C>G (TIA1)
NR_147219.1:n.1419C>G (TIA1)
NR_147220.1:n.1405C>G (TIA1)
NR_147221.1:n.1476C>G (TIA1)
NR_147222.1:n.1471C>G (TIA1)
NR_147223.1:n.1529C>G (TIA1)
NR_147224.1:n.1407C>G (TIA1)
NR_147225.1:n.1562C>G (TIA1)
NR_147226.1:n.1410C>G (TIA1)
NR_147227.1:n.1480C>G (TIA1)
NR_147228.1:n.1443C>G (TIA1)
NR_147229.1:n.1386C>G (TIA1)
NR_147230.1:n.1628C>G (TIA1)
NR_147231.1:n.1440C>G (TIA1)
NR_147232.1:n.1313C>G (TIA1)
XM_005264528.5:c.752C>G (TIA1) XP_005264585.1:p.Ala251Gly
XM_005264531.2:c.644C>G (TIA1) XP_005264588.1:p.Ala215Gly
XM_011533082.2:c.647C>G (TIA1) XP_011531384.1:p.Ala216Gly
XM_017004792.1:c.647C>G (TIA1) XP_016860281.1:p.Ala216Gly
XM_017004793.2:c.647C>G (TIA1) XP_016860282.1:p.Ala216Gly
XM_017004794.1:c.647C>G (TIA1) XP_016860283.1:p.Ala216Gly
XM_017004795.1:c.644C>G (TIA1) XP_016860284.1:p.Ala215Gly
XM_017004796.1:c.527C>G (TIA1) XP_016860285.1:p.Ala176Gly
XM_017004800.1:c.527C>G (TIA1) XP_016860289.1:p.Ala176Gly
XM_024453063.1:c.527C>G (TIA1) XP_024308831.1:p.Ala176Gly
XM_024453064.1:c.527C>G (TIA1) XP_024308832.1:p.Ala176Gly
XM_024453065.1:c.527C>G (TIA1) XP_024308833.1:p.Ala176Gly
XM_024453066.1:c.527C>G (TIA1) XP_024308834.1:p.Ala176Gly
XM_024453067.1:c.524C>G (TIA1) XP_024308835.1:p.Ala175Gly
XR_002959329.1:n.4531C>G (TIA1)
XR_002959330.1:n.2365C>G (TIA1)
XR_002959331.1:n.4528C>G (TIA1)
XR_002959332.1:n.2071C>G (TIA1)
NM_022173.4:c.947C>G (TIA1) MANE Select NP_071505.2:p.Ala316Gly
NM_001351508.2:c.944C>G (TIA1) NP_001338437.1:p.Ala315Gly
NM_001351509.2:c.920C>G (TIA1) NP_001338438.1:p.Ala307Gly
NM_001351510.2:c.911C>G (TIA1) NP_001338439.1:p.Ala304Gly
NM_001351514.2:c.719C>G (TIA1) NP_001338443.1:p.Ala240Gly
NM_001351515.2:c.644C>G (TIA1) NP_001338444.1:p.Ala215Gly
NM_001351517.2:c.524C>G (TIA1) NP_001338446.1:p.Ala175Gly
NM_001351524.2:c.527C>G (TIA1) NP_001338453.1:p.Ala176Gly
NM_001351525.2:c.527C>G (TIA1) NP_001338454.1:p.Ala176Gly
NM_022037.4:c.914C>G (TIA1) NP_071320.2:p.Ala305Gly
NR_147219.2:n.1254C>G (TIA1)
NR_147220.2:n.1240C>G (TIA1)
NR_147221.2:n.1311C>G (TIA1)
NR_147222.2:n.1306C>G (TIA1)
NR_147223.2:n.1364C>G (TIA1)
NR_147224.2:n.1242C>G (TIA1)
NR_147225.2:n.1397C>G (TIA1)
NR_147226.2:n.1245C>G (TIA1)
NR_147227.2:n.1315C>G (TIA1)
NR_147228.2:n.1278C>G (TIA1)
NR_147229.2:n.1221C>G (TIA1)
NR_147230.2:n.1463C>G (TIA1)
NR_147231.2:n.1275C>G (TIA1)
NR_147232.2:n.1148C>G (TIA1)
Search 100 bp 5'
Search 100 bp 3'