Canonical Allele Identifier: CA347150168

Gene: TIA1 C2orf42

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70214445T>C , CM000664.2:g.70214445T>C	GRCh38
NC_000002.11:g.70441577T>C , CM000664.1:g.70441577T>C	GRCh37
NC_000002.10:g.70295081T>C	NCBI36
NG_029967.1:g.39203A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022173.4:c.938A>G (TIA1) MANE Select	NP_071505.2:p.Tyr313Cys
ENST00000433529.7:c.938A>G (TIA1) MANE Select	ENSP00000401371.2:p.Tyr313Cys
NM_001351508.1:c.935A>G (TIA1)	NP_001338437.1:p.Tyr312Cys
NM_001351508.2:c.935A>G (TIA1)	NP_001338437.1:p.Tyr312Cys
NM_001351509.1:c.911A>G (TIA1)	NP_001338438.1:p.Tyr304Cys
NM_001351509.2:c.911A>G (TIA1)	NP_001338438.1:p.Tyr304Cys
NM_001351510.1:c.902A>G (TIA1)	NP_001338439.1:p.Tyr301Cys
NM_001351510.2:c.902A>G (TIA1)	NP_001338439.1:p.Tyr301Cys
NM_001351511.1:c.827A>G (TIA1)	NP_001338440.1:p.Tyr276Cys
NM_001351512.1:c.800A>G (TIA1)	NP_001338441.1:p.Tyr267Cys
NM_001351513.1:c.794A>G (TIA1)	NP_001338442.1:p.Tyr265Cys
NM_001351514.1:c.710A>G (TIA1)	NP_001338443.1:p.Tyr237Cys
NM_001351514.2:c.710A>G (TIA1)	NP_001338443.1:p.Tyr237Cys
NM_001351515.1:c.635A>G (TIA1)	NP_001338444.1:p.Tyr212Cys
NM_001351515.2:c.635A>G (TIA1)	NP_001338444.1:p.Tyr212Cys
NM_001351517.1:c.515A>G (TIA1)	NP_001338446.1:p.Tyr172Cys
NM_001351517.2:c.515A>G (TIA1)	NP_001338446.1:p.Tyr172Cys
NM_001351524.1:c.518A>G (TIA1)	NP_001338453.1:p.Tyr173Cys
NM_001351524.2:c.518A>G (TIA1)	NP_001338453.1:p.Tyr173Cys
NM_001351525.1:c.518A>G (TIA1)	NP_001338454.1:p.Tyr173Cys
NM_001351525.2:c.518A>G (TIA1)	NP_001338454.1:p.Tyr173Cys
NM_022037.2:c.905A>G (TIA1)	NP_071320.2:p.Tyr302Cys
NM_022037.3:c.905A>G (TIA1)	NP_071320.2:p.Tyr302Cys
NM_022037.4:c.905A>G (TIA1)	NP_071320.2:p.Tyr302Cys
NM_022173.2:c.938A>G (TIA1)	NP_071505.2:p.Tyr313Cys
NM_022173.3:c.938A>G (TIA1)	NP_071505.2:p.Tyr313Cys
NR_147216.1:n.1295A>G (TIA1)
NR_147217.1:n.1176A>G (TIA1)
NR_147218.1:n.1173A>G (TIA1)
NR_147219.1:n.1410A>G (TIA1)
NR_147219.2:n.1245A>G (TIA1)
NR_147220.1:n.1396A>G (TIA1)
NR_147220.2:n.1231A>G (TIA1)
NR_147221.1:n.1467A>G (TIA1)
NR_147221.2:n.1302A>G (TIA1)
NR_147222.1:n.1462A>G (TIA1)
NR_147222.2:n.1297A>G (TIA1)
NR_147223.1:n.1520A>G (TIA1)
NR_147223.2:n.1355A>G (TIA1)
NR_147224.1:n.1398A>G (TIA1)
NR_147224.2:n.1233A>G (TIA1)
NR_147225.1:n.1553A>G (TIA1)
NR_147225.2:n.1388A>G (TIA1)
NR_147226.1:n.1401A>G (TIA1)
NR_147226.2:n.1236A>G (TIA1)
NR_147227.1:n.1471A>G (TIA1)
NR_147227.2:n.1306A>G (TIA1)
NR_147228.1:n.1434A>G (TIA1)
NR_147228.2:n.1269A>G (TIA1)
NR_147229.1:n.1377A>G (TIA1)
NR_147229.2:n.1212A>G (TIA1)
NR_147230.1:n.1619A>G (TIA1)
NR_147230.2:n.1454A>G (TIA1)
NR_147231.1:n.1431A>G (TIA1)
NR_147231.2:n.1266A>G (TIA1)
NR_147232.1:n.1304A>G (TIA1)
NR_147232.2:n.1139A>G (TIA1)
ENST00000282574.8:c.935A>G (TIA1)	ENSP00000282574.4:p.Tyr312Cys
ENST00000415783.6:c.905A>G (TIA1)	ENSP00000404023.2:p.Tyr302Cys
ENST00000433529.6:c.938A>G (TIA1)	ENSP00000401371.2:p.Tyr313Cys
ENST00000445587.5:c.732-1600A>G (TIA1)	ENSP00000399567.1:n.732-1600A>G
ENST00000454815.6:c.251A>G (TIA1)	ENSP00000402263.2:p.Tyr84Cys
ENST00000468787.5:n.444A>G (TIA1)
ENST00000470096.1:n.212-32448A>G (C2orf42)
ENST00000486392.5:n.248A>G (TIA1)
ENST00000495774.1:n.340A>G (TIA1)
XM_005264527.1:c.902A>G (TIA1)	XP_005264584.1:p.Tyr301Cys
XM_005264528.3:c.743A>G (TIA1)	XP_005264585.1:p.Tyr248Cys
XM_005264528.5:c.743A>G (TIA1)	XP_005264585.1:p.Tyr248Cys
XM_005264531.1:c.635A>G (TIA1)	XP_005264588.1:p.Tyr212Cys
XM_005264531.2:c.635A>G (TIA1)	XP_005264588.1:p.Tyr212Cys
XM_011533077.1:c.935A>G (TIA1)	XP_011531379.1:p.Tyr312Cys
XM_011533078.1:c.638A>G (TIA1)	XP_011531380.1:p.Tyr213Cys
XM_011533079.1:c.638A>G (TIA1)	XP_011531381.1:p.Tyr213Cys
XM_011533080.1:c.638A>G (TIA1)	XP_011531382.1:p.Tyr213Cys
XM_011533081.1:c.638A>G (TIA1)	XP_011531383.1:p.Tyr213Cys
XM_011533082.1:c.638A>G (TIA1)	XP_011531384.1:p.Tyr213Cys
XM_011533082.2:c.638A>G (TIA1)	XP_011531384.1:p.Tyr213Cys
XM_011533083.1:c.518A>G (TIA1)	XP_011531385.1:p.Tyr173Cys
XM_017004792.1:c.638A>G (TIA1)	XP_016860281.1:p.Tyr213Cys
XM_017004793.2:c.638A>G (TIA1)	XP_016860282.1:p.Tyr213Cys
XM_017004794.1:c.638A>G (TIA1)	XP_016860283.1:p.Tyr213Cys
XM_017004795.1:c.635A>G (TIA1)	XP_016860284.1:p.Tyr212Cys
XM_017004796.1:c.518A>G (TIA1)	XP_016860285.1:p.Tyr173Cys
XM_017004800.1:c.518A>G (TIA1)	XP_016860289.1:p.Tyr173Cys
XM_024453063.1:c.518A>G (TIA1)	XP_024308831.1:p.Tyr173Cys
XM_024453064.1:c.518A>G (TIA1)	XP_024308832.1:p.Tyr173Cys
XM_024453065.1:c.518A>G (TIA1)	XP_024308833.1:p.Tyr173Cys
XM_024453066.1:c.518A>G (TIA1)	XP_024308834.1:p.Tyr173Cys
XM_024453067.1:c.515A>G (TIA1)	XP_024308835.1:p.Tyr172Cys
XR_002959329.1:n.4522A>G (TIA1)
XR_002959330.1:n.2356A>G (TIA1)
XR_002959331.1:n.4519A>G (TIA1)
XR_002959332.1:n.2062A>G (TIA1)
XR_244955.1:n.1295A>G (TIA1)
XR_939714.1:n.1274A>G (TIA1)