Canonical Allele Identifier: CA347149152

Gene: TIA1 C2orf42

Linked Data

• MyVariant Identifiers: chr2:g.70439901A>T (hg19) ; chr2:g.70212769A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70212769A>T , CM000664.2:g.70212769A>T	GRCh38
NC_000002.11:g.70439901A>T , CM000664.1:g.70439901A>T	GRCh37
NC_000002.10:g.70293405A>T	NCBI36
NG_029967.1:g.40879T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433529.7:c.1111T>A (TIA1) MANE Select	ENSP00000401371.2:p.Leu371Met
ENST00000282574.8:c.1108T>A (TIA1)	ENSP00000282574.4:p.Leu370Met
ENST00000415783.6:c.1078T>A (TIA1)	ENSP00000404023.2:p.Leu360Met
ENST00000433529.6:c.1111T>A (TIA1)	ENSP00000401371.2:p.Leu371Met
ENST00000445587.5:c.808T>A (TIA1)	ENSP00000399567.1:p.Leu270Met
ENST00000470096.1:n.212-30772T>A (C2orf42)
ENST00000486392.5:n.421T>A (TIA1)
ENST00000495774.1:n.513T>A (TIA1)
NM_022037.2:c.1078T>A (TIA1)	NP_071320.2:p.Leu360Met
NM_022173.2:c.1111T>A (TIA1)	NP_071505.2:p.Leu371Met
XM_005264527.1:c.1075T>A (TIA1)	XP_005264584.1:p.Leu359Met
XM_005264528.3:c.916T>A (TIA1)	XP_005264585.1:p.Leu306Met
XM_005264531.1:c.808T>A (TIA1)	XP_005264588.1:p.Leu270Met
XM_011533077.1:c.1108T>A (TIA1)	XP_011531379.1:p.Leu370Met
XM_011533078.1:c.811T>A (TIA1)	XP_011531380.1:p.Leu271Met
XM_011533079.1:c.811T>A (TIA1)	XP_011531381.1:p.Leu271Met
XM_011533080.1:c.811T>A (TIA1)	XP_011531382.1:p.Leu271Met
XM_011533081.1:c.811T>A (TIA1)	XP_011531383.1:p.Leu271Met
XM_011533082.1:c.811T>A (TIA1)	XP_011531384.1:p.Leu271Met
XM_011533083.1:c.691T>A (TIA1)	XP_011531385.1:p.Leu231Met
XR_244955.1:n.1468T>A (TIA1)
XR_939714.1:n.1447T>A (TIA1)
NM_001351508.1:c.1108T>A (TIA1)	NP_001338437.1:p.Leu370Met
NM_001351509.1:c.1084T>A (TIA1)	NP_001338438.1:p.Leu362Met
NM_001351510.1:c.1075T>A (TIA1)	NP_001338439.1:p.Leu359Met
NM_001351511.1:c.1000T>A (TIA1)	NP_001338440.1:p.Leu334Met
NM_001351512.1:c.973T>A (TIA1)	NP_001338441.1:p.Leu325Met
NM_001351513.1:c.967T>A (TIA1)	NP_001338442.1:p.Leu323Met
NM_001351514.1:c.883T>A (TIA1)	NP_001338443.1:p.Leu295Met
NM_001351515.1:c.808T>A (TIA1)	NP_001338444.1:p.Leu270Met
NM_001351517.1:c.688T>A (TIA1)	NP_001338446.1:p.Leu230Met
NM_001351524.1:c.691T>A (TIA1)	NP_001338453.1:p.Leu231Met
NM_001351525.1:c.691T>A (TIA1)	NP_001338454.1:p.Leu231Met
NM_022037.3:c.1078T>A (TIA1)	NP_071320.2:p.Leu360Met
NM_022173.3:c.1111T>A (TIA1)	NP_071505.2:p.Leu371Met
NR_147216.1:n.1468T>A (TIA1)
NR_147217.1:n.1349T>A (TIA1)
NR_147218.1:n.1346T>A (TIA1)
NR_147219.1:n.1583T>A (TIA1)
NR_147220.1:n.1569T>A (TIA1)
NR_147221.1:n.1640T>A (TIA1)
NR_147222.1:n.1635T>A (TIA1)
NR_147223.1:n.1693T>A (TIA1)
NR_147224.1:n.1571T>A (TIA1)
NR_147225.1:n.1726T>A (TIA1)
NR_147226.1:n.1574T>A (TIA1)
NR_147227.1:n.1644T>A (TIA1)
NR_147228.1:n.1607T>A (TIA1)
NR_147229.1:n.1550T>A (TIA1)
NR_147230.1:n.1792T>A (TIA1)
NR_147231.1:n.1604T>A (TIA1)
NR_147232.1:n.1477T>A (TIA1)
XM_005264528.5:c.916T>A (TIA1)	XP_005264585.1:p.Leu306Met
XM_005264531.2:c.808T>A (TIA1)	XP_005264588.1:p.Leu270Met
XM_011533082.2:c.811T>A (TIA1)	XP_011531384.1:p.Leu271Met
XM_017004792.1:c.811T>A (TIA1)	XP_016860281.1:p.Leu271Met
XM_017004793.2:c.811T>A (TIA1)	XP_016860282.1:p.Leu271Met
XM_017004794.1:c.811T>A (TIA1)	XP_016860283.1:p.Leu271Met
XM_017004795.1:c.808T>A (TIA1)	XP_016860284.1:p.Leu270Met
XM_017004796.1:c.691T>A (TIA1)	XP_016860285.1:p.Leu231Met
XM_017004800.1:c.691T>A (TIA1)	XP_016860289.1:p.Leu231Met
XM_024453063.1:c.691T>A (TIA1)	XP_024308831.1:p.Leu231Met
XM_024453064.1:c.691T>A (TIA1)	XP_024308832.1:p.Leu231Met
XM_024453065.1:c.691T>A (TIA1)	XP_024308833.1:p.Leu231Met
XM_024453066.1:c.691T>A (TIA1)	XP_024308834.1:p.Leu231Met
XM_024453067.1:c.688T>A (TIA1)	XP_024308835.1:p.Leu230Met
XR_002959329.1:n.4695T>A (TIA1)
XR_002959330.1:n.2529T>A (TIA1)
XR_002959331.1:n.4692T>A (TIA1)
XR_002959332.1:n.2235T>A (TIA1)
NM_022173.4:c.1111T>A (TIA1) MANE Select	NP_071505.2:p.Leu371Met
NM_001351508.2:c.1108T>A (TIA1)	NP_001338437.1:p.Leu370Met
NM_001351509.2:c.1084T>A (TIA1)	NP_001338438.1:p.Leu362Met
NM_001351510.2:c.1075T>A (TIA1)	NP_001338439.1:p.Leu359Met
NM_001351514.2:c.883T>A (TIA1)	NP_001338443.1:p.Leu295Met
NM_001351515.2:c.808T>A (TIA1)	NP_001338444.1:p.Leu270Met
NM_001351517.2:c.688T>A (TIA1)	NP_001338446.1:p.Leu230Met
NM_001351524.2:c.691T>A (TIA1)	NP_001338453.1:p.Leu231Met
NM_001351525.2:c.691T>A (TIA1)	NP_001338454.1:p.Leu231Met
NM_022037.4:c.1078T>A (TIA1)	NP_071320.2:p.Leu360Met
NR_147219.2:n.1418T>A (TIA1)
NR_147220.2:n.1404T>A (TIA1)
NR_147221.2:n.1475T>A (TIA1)
NR_147222.2:n.1470T>A (TIA1)
NR_147223.2:n.1528T>A (TIA1)
NR_147224.2:n.1406T>A (TIA1)
NR_147225.2:n.1561T>A (TIA1)
NR_147226.2:n.1409T>A (TIA1)
NR_147227.2:n.1479T>A (TIA1)
NR_147228.2:n.1442T>A (TIA1)
NR_147229.2:n.1385T>A (TIA1)
NR_147230.2:n.1627T>A (TIA1)
NR_147231.2:n.1439T>A (TIA1)
NR_147232.2:n.1312T>A (TIA1)