Canonical Allele Identifier: CA347149452
Community Standard Title: NM_022173.4(TIA1):c.1038G>T (p.Gln346His)
Gene: TIA1 HGNC NCBI
C2orf42 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70212842C>A , CM000664.2:g.70212842C>A GRCh38
NC_000002.11:g.70439974C>A , CM000664.1:g.70439974C>A GRCh37
NC_000002.10:g.70293478C>A NCBI36
NG_029967.1:g.40806G>T

Transcript Alleles

HGVS Amino-acid Change
NM_022173.4:c.1038G>T (TIA1) MANE Select NP_071505.2:p.Gln346His
ENST00000433529.7:c.1038G>T (TIA1) MANE Select ENSP00000401371.2:p.Gln346His
NM_001351508.1:c.1035G>T (TIA1) NP_001338437.1:p.Gln345His
NM_001351508.2:c.1035G>T (TIA1) NP_001338437.1:p.Gln345His
NM_001351509.1:c.1011G>T (TIA1) NP_001338438.1:p.Gln337His
NM_001351509.2:c.1011G>T (TIA1) NP_001338438.1:p.Gln337His
NM_001351510.1:c.1002G>T (TIA1) NP_001338439.1:p.Gln334His
NM_001351510.2:c.1002G>T (TIA1) NP_001338439.1:p.Gln334His
NM_001351511.1:c.927G>T (TIA1) NP_001338440.1:p.Gln309His
NM_001351512.1:c.900G>T (TIA1) NP_001338441.1:p.Gln300His
NM_001351513.1:c.894G>T (TIA1) NP_001338442.1:p.Gln298His
NM_001351514.1:c.810G>T (TIA1) NP_001338443.1:p.Gln270His
NM_001351514.2:c.810G>T (TIA1) NP_001338443.1:p.Gln270His
NM_001351515.1:c.735G>T (TIA1) NP_001338444.1:p.Gln245His
NM_001351515.2:c.735G>T (TIA1) NP_001338444.1:p.Gln245His
NM_001351517.1:c.615G>T (TIA1) NP_001338446.1:p.Gln205His
NM_001351517.2:c.615G>T (TIA1) NP_001338446.1:p.Gln205His
NM_001351524.1:c.618G>T (TIA1) NP_001338453.1:p.Gln206His
NM_001351524.2:c.618G>T (TIA1) NP_001338453.1:p.Gln206His
NM_001351525.1:c.618G>T (TIA1) NP_001338454.1:p.Gln206His
NM_001351525.2:c.618G>T (TIA1) NP_001338454.1:p.Gln206His
NM_022037.2:c.1005G>T (TIA1) NP_071320.2:p.Gln335His
NM_022037.3:c.1005G>T (TIA1) NP_071320.2:p.Gln335His
NM_022037.4:c.1005G>T (TIA1) NP_071320.2:p.Gln335His
NM_022173.2:c.1038G>T (TIA1) NP_071505.2:p.Gln346His
NM_022173.3:c.1038G>T (TIA1) NP_071505.2:p.Gln346His
NR_147216.1:n.1395G>T (TIA1)
NR_147217.1:n.1276G>T (TIA1)
NR_147218.1:n.1273G>T (TIA1)
NR_147219.1:n.1510G>T (TIA1)
NR_147219.2:n.1345G>T (TIA1)
NR_147220.1:n.1496G>T (TIA1)
NR_147220.2:n.1331G>T (TIA1)
NR_147221.1:n.1567G>T (TIA1)
NR_147221.2:n.1402G>T (TIA1)
NR_147222.1:n.1562G>T (TIA1)
NR_147222.2:n.1397G>T (TIA1)
NR_147223.1:n.1620G>T (TIA1)
NR_147223.2:n.1455G>T (TIA1)
NR_147224.1:n.1498G>T (TIA1)
NR_147224.2:n.1333G>T (TIA1)
NR_147225.1:n.1653G>T (TIA1)
NR_147225.2:n.1488G>T (TIA1)
NR_147226.1:n.1501G>T (TIA1)
NR_147226.2:n.1336G>T (TIA1)
NR_147227.1:n.1571G>T (TIA1)
NR_147227.2:n.1406G>T (TIA1)
NR_147228.1:n.1534G>T (TIA1)
NR_147228.2:n.1369G>T (TIA1)
NR_147229.1:n.1477G>T (TIA1)
NR_147229.2:n.1312G>T (TIA1)
NR_147230.1:n.1719G>T (TIA1)
NR_147230.2:n.1554G>T (TIA1)
NR_147231.1:n.1531G>T (TIA1)
NR_147231.2:n.1366G>T (TIA1)
NR_147232.1:n.1404G>T (TIA1)
NR_147232.2:n.1239G>T (TIA1)
ENST00000282574.8:c.1035G>T (TIA1) ENSP00000282574.4:p.Gln345His
ENST00000415783.6:c.1005G>T (TIA1) ENSP00000404023.2:p.Gln335His
ENST00000433529.6:c.1038G>T (TIA1) ENSP00000401371.2:p.Gln346His
ENST00000445587.5:c.735G>T (TIA1) ENSP00000399567.1:p.Gln245His
ENST00000470096.1:n.212-30845G>T (C2orf42)
ENST00000486392.5:n.348G>T (TIA1)
ENST00000495774.1:n.440G>T (TIA1)
XM_005264527.1:c.1002G>T (TIA1) XP_005264584.1:p.Gln334His
XM_005264528.3:c.843G>T (TIA1) XP_005264585.1:p.Gln281His
XM_005264528.5:c.843G>T (TIA1) XP_005264585.1:p.Gln281His
XM_005264531.1:c.735G>T (TIA1) XP_005264588.1:p.Gln245His
XM_005264531.2:c.735G>T (TIA1) XP_005264588.1:p.Gln245His
XM_011533077.1:c.1035G>T (TIA1) XP_011531379.1:p.Gln345His
XM_011533078.1:c.738G>T (TIA1) XP_011531380.1:p.Gln246His
XM_011533079.1:c.738G>T (TIA1) XP_011531381.1:p.Gln246His
XM_011533080.1:c.738G>T (TIA1) XP_011531382.1:p.Gln246His
XM_011533081.1:c.738G>T (TIA1) XP_011531383.1:p.Gln246His
XM_011533082.1:c.738G>T (TIA1) XP_011531384.1:p.Gln246His
XM_011533082.2:c.738G>T (TIA1) XP_011531384.1:p.Gln246His
XM_011533083.1:c.618G>T (TIA1) XP_011531385.1:p.Gln206His
XM_017004792.1:c.738G>T (TIA1) XP_016860281.1:p.Gln246His
XM_017004793.2:c.738G>T (TIA1) XP_016860282.1:p.Gln246His
XM_017004794.1:c.738G>T (TIA1) XP_016860283.1:p.Gln246His
XM_017004795.1:c.735G>T (TIA1) XP_016860284.1:p.Gln245His
XM_017004796.1:c.618G>T (TIA1) XP_016860285.1:p.Gln206His
XM_017004800.1:c.618G>T (TIA1) XP_016860289.1:p.Gln206His
XM_024453063.1:c.618G>T (TIA1) XP_024308831.1:p.Gln206His
XM_024453064.1:c.618G>T (TIA1) XP_024308832.1:p.Gln206His
XM_024453065.1:c.618G>T (TIA1) XP_024308833.1:p.Gln206His
XM_024453066.1:c.618G>T (TIA1) XP_024308834.1:p.Gln206His
XM_024453067.1:c.615G>T (TIA1) XP_024308835.1:p.Gln205His
XR_002959329.1:n.4622G>T (TIA1)
XR_002959330.1:n.2456G>T (TIA1)
XR_002959331.1:n.4619G>T (TIA1)
XR_002959332.1:n.2162G>T (TIA1)
XR_244955.1:n.1395G>T (TIA1)
XR_939714.1:n.1374G>T (TIA1)