Canonical Allele Identifier: CA347149971
Gene: TIA1 HGNC NCBI
C2orf42 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70214391G>A , CM000664.2:g.70214391G>A GRCh38
NC_000002.11:g.70441523G>A , CM000664.1:g.70441523G>A GRCh37
NC_000002.10:g.70295027G>A NCBI36
NG_029967.1:g.39257C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433529.7:c.992C>T (TIA1) MANE Select ENSP00000401371.2:p.Ala331Val
ENST00000282574.8:c.989C>T (TIA1) ENSP00000282574.4:p.Ala330Val
ENST00000415783.6:c.959C>T (TIA1) ENSP00000404023.2:p.Ala320Val
ENST00000433529.6:c.992C>T (TIA1) ENSP00000401371.2:p.Ala331Val
ENST00000445587.5:c.732-1546C>T (TIA1) ENSP00000399567.1:n.732-1546C>T
ENST00000454815.6:c.305C>T (TIA1) ENSP00000402263.2:p.Ala102Val
ENST00000468787.5:n.498C>T (TIA1)
ENST00000470096.1:n.212-32394C>T (C2orf42)
ENST00000486392.5:n.302C>T (TIA1)
ENST00000495774.1:n.394C>T (TIA1)
NM_022037.2:c.959C>T (TIA1) NP_071320.2:p.Ala320Val
NM_022173.2:c.992C>T (TIA1) NP_071505.2:p.Ala331Val
XM_005264527.1:c.956C>T (TIA1) XP_005264584.1:p.Ala319Val
XM_005264528.3:c.797C>T (TIA1) XP_005264585.1:p.Ala266Val
XM_005264531.1:c.689C>T (TIA1) XP_005264588.1:p.Ala230Val
XM_011533077.1:c.989C>T (TIA1) XP_011531379.1:p.Ala330Val
XM_011533078.1:c.692C>T (TIA1) XP_011531380.1:p.Ala231Val
XM_011533079.1:c.692C>T (TIA1) XP_011531381.1:p.Ala231Val
XM_011533080.1:c.692C>T (TIA1) XP_011531382.1:p.Ala231Val
XM_011533081.1:c.692C>T (TIA1) XP_011531383.1:p.Ala231Val
XM_011533082.1:c.692C>T (TIA1) XP_011531384.1:p.Ala231Val
XM_011533083.1:c.572C>T (TIA1) XP_011531385.1:p.Ala191Val
XR_244955.1:n.1349C>T (TIA1)
XR_939714.1:n.1328C>T (TIA1)
NM_001351508.1:c.989C>T (TIA1) NP_001338437.1:p.Ala330Val
NM_001351509.1:c.965C>T (TIA1) NP_001338438.1:p.Ala322Val
NM_001351510.1:c.956C>T (TIA1) NP_001338439.1:p.Ala319Val
NM_001351511.1:c.881C>T (TIA1) NP_001338440.1:p.Ala294Val
NM_001351512.1:c.854C>T (TIA1) NP_001338441.1:p.Ala285Val
NM_001351513.1:c.848C>T (TIA1) NP_001338442.1:p.Ala283Val
NM_001351514.1:c.764C>T (TIA1) NP_001338443.1:p.Ala255Val
NM_001351515.1:c.689C>T (TIA1) NP_001338444.1:p.Ala230Val
NM_001351517.1:c.569C>T (TIA1) NP_001338446.1:p.Ala190Val
NM_001351524.1:c.572C>T (TIA1) NP_001338453.1:p.Ala191Val
NM_001351525.1:c.572C>T (TIA1) NP_001338454.1:p.Ala191Val
NM_022037.3:c.959C>T (TIA1) NP_071320.2:p.Ala320Val
NM_022173.3:c.992C>T (TIA1) NP_071505.2:p.Ala331Val
NR_147216.1:n.1349C>T (TIA1)
NR_147217.1:n.1230C>T (TIA1)
NR_147218.1:n.1227C>T (TIA1)
NR_147219.1:n.1464C>T (TIA1)
NR_147220.1:n.1450C>T (TIA1)
NR_147221.1:n.1521C>T (TIA1)
NR_147222.1:n.1516C>T (TIA1)
NR_147223.1:n.1574C>T (TIA1)
NR_147224.1:n.1452C>T (TIA1)
NR_147225.1:n.1607C>T (TIA1)
NR_147226.1:n.1455C>T (TIA1)
NR_147227.1:n.1525C>T (TIA1)
NR_147228.1:n.1488C>T (TIA1)
NR_147229.1:n.1431C>T (TIA1)
NR_147230.1:n.1673C>T (TIA1)
NR_147231.1:n.1485C>T (TIA1)
NR_147232.1:n.1358C>T (TIA1)
XM_005264528.5:c.797C>T (TIA1) XP_005264585.1:p.Ala266Val
XM_005264531.2:c.689C>T (TIA1) XP_005264588.1:p.Ala230Val
XM_011533082.2:c.692C>T (TIA1) XP_011531384.1:p.Ala231Val
XM_017004792.1:c.692C>T (TIA1) XP_016860281.1:p.Ala231Val
XM_017004793.2:c.692C>T (TIA1) XP_016860282.1:p.Ala231Val
XM_017004794.1:c.692C>T (TIA1) XP_016860283.1:p.Ala231Val
XM_017004795.1:c.689C>T (TIA1) XP_016860284.1:p.Ala230Val
XM_017004796.1:c.572C>T (TIA1) XP_016860285.1:p.Ala191Val
XM_017004800.1:c.572C>T (TIA1) XP_016860289.1:p.Ala191Val
XM_024453063.1:c.572C>T (TIA1) XP_024308831.1:p.Ala191Val
XM_024453064.1:c.572C>T (TIA1) XP_024308832.1:p.Ala191Val
XM_024453065.1:c.572C>T (TIA1) XP_024308833.1:p.Ala191Val
XM_024453066.1:c.572C>T (TIA1) XP_024308834.1:p.Ala191Val
XM_024453067.1:c.569C>T (TIA1) XP_024308835.1:p.Ala190Val
XR_002959329.1:n.4576C>T (TIA1)
XR_002959330.1:n.2410C>T (TIA1)
XR_002959331.1:n.4573C>T (TIA1)
XR_002959332.1:n.2116C>T (TIA1)
NM_022173.4:c.992C>T (TIA1) MANE Select NP_071505.2:p.Ala331Val
NM_001351508.2:c.989C>T (TIA1) NP_001338437.1:p.Ala330Val
NM_001351509.2:c.965C>T (TIA1) NP_001338438.1:p.Ala322Val
NM_001351510.2:c.956C>T (TIA1) NP_001338439.1:p.Ala319Val
NM_001351514.2:c.764C>T (TIA1) NP_001338443.1:p.Ala255Val
NM_001351515.2:c.689C>T (TIA1) NP_001338444.1:p.Ala230Val
NM_001351517.2:c.569C>T (TIA1) NP_001338446.1:p.Ala190Val
NM_001351524.2:c.572C>T (TIA1) NP_001338453.1:p.Ala191Val
NM_001351525.2:c.572C>T (TIA1) NP_001338454.1:p.Ala191Val
NM_022037.4:c.959C>T (TIA1) NP_071320.2:p.Ala320Val
NR_147219.2:n.1299C>T (TIA1)
NR_147220.2:n.1285C>T (TIA1)
NR_147221.2:n.1356C>T (TIA1)
NR_147222.2:n.1351C>T (TIA1)
NR_147223.2:n.1409C>T (TIA1)
NR_147224.2:n.1287C>T (TIA1)
NR_147225.2:n.1442C>T (TIA1)
NR_147226.2:n.1290C>T (TIA1)
NR_147227.2:n.1360C>T (TIA1)
NR_147228.2:n.1323C>T (TIA1)
NR_147229.2:n.1266C>T (TIA1)
NR_147230.2:n.1508C>T (TIA1)
NR_147231.2:n.1320C>T (TIA1)
NR_147232.2:n.1193C>T (TIA1)