Canonical Allele Identifier: CA347149258

Gene: TIA1 C2orf42

Linked Data

• MyVariant Identifiers: chr2:g.70439925G>A (hg19) ; chr2:g.70212793G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70212793G>A , CM000664.2:g.70212793G>A	GRCh38
NC_000002.11:g.70439925G>A , CM000664.1:g.70439925G>A	GRCh37
NC_000002.10:g.70293429G>A	NCBI36
NG_029967.1:g.40855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433529.7:c.1087C>T (TIA1) MANE Select	ENSP00000401371.2:p.Pro363Ser
ENST00000282574.8:c.1084C>T (TIA1)	ENSP00000282574.4:p.Pro362Ser
ENST00000415783.6:c.1054C>T (TIA1)	ENSP00000404023.2:p.Pro352Ser
ENST00000433529.6:c.1087C>T (TIA1)	ENSP00000401371.2:p.Pro363Ser
ENST00000445587.5:c.784C>T (TIA1)	ENSP00000399567.1:p.Pro262Ser
ENST00000470096.1:n.212-30796C>T (C2orf42)
ENST00000486392.5:n.397C>T (TIA1)
ENST00000495774.1:n.489C>T (TIA1)
NM_022037.2:c.1054C>T (TIA1)	NP_071320.2:p.Pro352Ser
NM_022173.2:c.1087C>T (TIA1)	NP_071505.2:p.Pro363Ser
XM_005264527.1:c.1051C>T (TIA1)	XP_005264584.1:p.Pro351Ser
XM_005264528.3:c.892C>T (TIA1)	XP_005264585.1:p.Pro298Ser
XM_005264531.1:c.784C>T (TIA1)	XP_005264588.1:p.Pro262Ser
XM_011533077.1:c.1084C>T (TIA1)	XP_011531379.1:p.Pro362Ser
XM_011533078.1:c.787C>T (TIA1)	XP_011531380.1:p.Pro263Ser
XM_011533079.1:c.787C>T (TIA1)	XP_011531381.1:p.Pro263Ser
XM_011533080.1:c.787C>T (TIA1)	XP_011531382.1:p.Pro263Ser
XM_011533081.1:c.787C>T (TIA1)	XP_011531383.1:p.Pro263Ser
XM_011533082.1:c.787C>T (TIA1)	XP_011531384.1:p.Pro263Ser
XM_011533083.1:c.667C>T (TIA1)	XP_011531385.1:p.Pro223Ser
XR_244955.1:n.1444C>T (TIA1)
XR_939714.1:n.1423C>T (TIA1)
NM_001351508.1:c.1084C>T (TIA1)	NP_001338437.1:p.Pro362Ser
NM_001351509.1:c.1060C>T (TIA1)	NP_001338438.1:p.Pro354Ser
NM_001351510.1:c.1051C>T (TIA1)	NP_001338439.1:p.Pro351Ser
NM_001351511.1:c.976C>T (TIA1)	NP_001338440.1:p.Pro326Ser
NM_001351512.1:c.949C>T (TIA1)	NP_001338441.1:p.Pro317Ser
NM_001351513.1:c.943C>T (TIA1)	NP_001338442.1:p.Pro315Ser
NM_001351514.1:c.859C>T (TIA1)	NP_001338443.1:p.Pro287Ser
NM_001351515.1:c.784C>T (TIA1)	NP_001338444.1:p.Pro262Ser
NM_001351517.1:c.664C>T (TIA1)	NP_001338446.1:p.Pro222Ser
NM_001351524.1:c.667C>T (TIA1)	NP_001338453.1:p.Pro223Ser
NM_001351525.1:c.667C>T (TIA1)	NP_001338454.1:p.Pro223Ser
NM_022037.3:c.1054C>T (TIA1)	NP_071320.2:p.Pro352Ser
NM_022173.3:c.1087C>T (TIA1)	NP_071505.2:p.Pro363Ser
NR_147216.1:n.1444C>T (TIA1)
NR_147217.1:n.1325C>T (TIA1)
NR_147218.1:n.1322C>T (TIA1)
NR_147219.1:n.1559C>T (TIA1)
NR_147220.1:n.1545C>T (TIA1)
NR_147221.1:n.1616C>T (TIA1)
NR_147222.1:n.1611C>T (TIA1)
NR_147223.1:n.1669C>T (TIA1)
NR_147224.1:n.1547C>T (TIA1)
NR_147225.1:n.1702C>T (TIA1)
NR_147226.1:n.1550C>T (TIA1)
NR_147227.1:n.1620C>T (TIA1)
NR_147228.1:n.1583C>T (TIA1)
NR_147229.1:n.1526C>T (TIA1)
NR_147230.1:n.1768C>T (TIA1)
NR_147231.1:n.1580C>T (TIA1)
NR_147232.1:n.1453C>T (TIA1)
XM_005264528.5:c.892C>T (TIA1)	XP_005264585.1:p.Pro298Ser
XM_005264531.2:c.784C>T (TIA1)	XP_005264588.1:p.Pro262Ser
XM_011533082.2:c.787C>T (TIA1)	XP_011531384.1:p.Pro263Ser
XM_017004792.1:c.787C>T (TIA1)	XP_016860281.1:p.Pro263Ser
XM_017004793.2:c.787C>T (TIA1)	XP_016860282.1:p.Pro263Ser
XM_017004794.1:c.787C>T (TIA1)	XP_016860283.1:p.Pro263Ser
XM_017004795.1:c.784C>T (TIA1)	XP_016860284.1:p.Pro262Ser
XM_017004796.1:c.667C>T (TIA1)	XP_016860285.1:p.Pro223Ser
XM_017004800.1:c.667C>T (TIA1)	XP_016860289.1:p.Pro223Ser
XM_024453063.1:c.667C>T (TIA1)	XP_024308831.1:p.Pro223Ser
XM_024453064.1:c.667C>T (TIA1)	XP_024308832.1:p.Pro223Ser
XM_024453065.1:c.667C>T (TIA1)	XP_024308833.1:p.Pro223Ser
XM_024453066.1:c.667C>T (TIA1)	XP_024308834.1:p.Pro223Ser
XM_024453067.1:c.664C>T (TIA1)	XP_024308835.1:p.Pro222Ser
XR_002959329.1:n.4671C>T (TIA1)
XR_002959330.1:n.2505C>T (TIA1)
XR_002959331.1:n.4668C>T (TIA1)
XR_002959332.1:n.2211C>T (TIA1)
NM_022173.4:c.1087C>T (TIA1) MANE Select	NP_071505.2:p.Pro363Ser
NM_001351508.2:c.1084C>T (TIA1)	NP_001338437.1:p.Pro362Ser
NM_001351509.2:c.1060C>T (TIA1)	NP_001338438.1:p.Pro354Ser
NM_001351510.2:c.1051C>T (TIA1)	NP_001338439.1:p.Pro351Ser
NM_001351514.2:c.859C>T (TIA1)	NP_001338443.1:p.Pro287Ser
NM_001351515.2:c.784C>T (TIA1)	NP_001338444.1:p.Pro262Ser
NM_001351517.2:c.664C>T (TIA1)	NP_001338446.1:p.Pro222Ser
NM_001351524.2:c.667C>T (TIA1)	NP_001338453.1:p.Pro223Ser
NM_001351525.2:c.667C>T (TIA1)	NP_001338454.1:p.Pro223Ser
NM_022037.4:c.1054C>T (TIA1)	NP_071320.2:p.Pro352Ser
NR_147219.2:n.1394C>T (TIA1)
NR_147220.2:n.1380C>T (TIA1)
NR_147221.2:n.1451C>T (TIA1)
NR_147222.2:n.1446C>T (TIA1)
NR_147223.2:n.1504C>T (TIA1)
NR_147224.2:n.1382C>T (TIA1)
NR_147225.2:n.1537C>T (TIA1)
NR_147226.2:n.1385C>T (TIA1)
NR_147227.2:n.1455C>T (TIA1)
NR_147228.2:n.1418C>T (TIA1)
NR_147229.2:n.1361C>T (TIA1)
NR_147230.2:n.1603C>T (TIA1)
NR_147231.2:n.1415C>T (TIA1)
NR_147232.2:n.1288C>T (TIA1)