Canonical Allele Identifier: CA347149088

Gene: TIA1 C2orf42

Linked Data

• MyVariant Identifiers: chr2:g.70439886A>C (hg19) ; chr2:g.70212754A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70212754A>C , CM000664.2:g.70212754A>C	GRCh38
NC_000002.11:g.70439886A>C , CM000664.1:g.70439886A>C	GRCh37
NC_000002.10:g.70293390A>C	NCBI36
NG_029967.1:g.40894T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433529.7:c.1126T>G (TIA1) MANE Select	ENSP00000401371.2:p.Ser376Ala
ENST00000282574.8:c.1123T>G (TIA1)	ENSP00000282574.4:p.Ser375Ala
ENST00000415783.6:c.1093T>G (TIA1)	ENSP00000404023.2:p.Ser365Ala
ENST00000433529.6:c.1126T>G (TIA1)	ENSP00000401371.2:p.Ser376Ala
ENST00000445587.5:c.823T>G (TIA1)	ENSP00000399567.1:p.Ser275Ala
ENST00000470096.1:n.212-30757T>G (C2orf42)
ENST00000486392.5:n.436T>G (TIA1)
ENST00000495774.1:n.528T>G (TIA1)
NM_022037.2:c.1093T>G (TIA1)	NP_071320.2:p.Ser365Ala
NM_022173.2:c.1126T>G (TIA1)	NP_071505.2:p.Ser376Ala
XM_005264527.1:c.1090T>G (TIA1)	XP_005264584.1:p.Ser364Ala
XM_005264528.3:c.931T>G (TIA1)	XP_005264585.1:p.Ser311Ala
XM_005264531.1:c.823T>G (TIA1)	XP_005264588.1:p.Ser275Ala
XM_011533077.1:c.1123T>G (TIA1)	XP_011531379.1:p.Ser375Ala
XM_011533078.1:c.826T>G (TIA1)	XP_011531380.1:p.Ser276Ala
XM_011533079.1:c.826T>G (TIA1)	XP_011531381.1:p.Ser276Ala
XM_011533080.1:c.826T>G (TIA1)	XP_011531382.1:p.Ser276Ala
XM_011533081.1:c.826T>G (TIA1)	XP_011531383.1:p.Ser276Ala
XM_011533082.1:c.826T>G (TIA1)	XP_011531384.1:p.Ser276Ala
XM_011533083.1:c.706T>G (TIA1)	XP_011531385.1:p.Ser236Ala
XR_244955.1:n.1483T>G (TIA1)
XR_939714.1:n.1462T>G (TIA1)
NM_001351508.1:c.1123T>G (TIA1)	NP_001338437.1:p.Ser375Ala
NM_001351509.1:c.1099T>G (TIA1)	NP_001338438.1:p.Ser367Ala
NM_001351510.1:c.1090T>G (TIA1)	NP_001338439.1:p.Ser364Ala
NM_001351511.1:c.1015T>G (TIA1)	NP_001338440.1:p.Ser339Ala
NM_001351512.1:c.988T>G (TIA1)	NP_001338441.1:p.Ser330Ala
NM_001351513.1:c.982T>G (TIA1)	NP_001338442.1:p.Ser328Ala
NM_001351514.1:c.898T>G (TIA1)	NP_001338443.1:p.Ser300Ala
NM_001351515.1:c.823T>G (TIA1)	NP_001338444.1:p.Ser275Ala
NM_001351517.1:c.703T>G (TIA1)	NP_001338446.1:p.Ser235Ala
NM_001351524.1:c.706T>G (TIA1)	NP_001338453.1:p.Ser236Ala
NM_001351525.1:c.706T>G (TIA1)	NP_001338454.1:p.Ser236Ala
NM_022037.3:c.1093T>G (TIA1)	NP_071320.2:p.Ser365Ala
NM_022173.3:c.1126T>G (TIA1)	NP_071505.2:p.Ser376Ala
NR_147216.1:n.1483T>G (TIA1)
NR_147217.1:n.1364T>G (TIA1)
NR_147218.1:n.1361T>G (TIA1)
NR_147219.1:n.1598T>G (TIA1)
NR_147220.1:n.1584T>G (TIA1)
NR_147221.1:n.1655T>G (TIA1)
NR_147222.1:n.1650T>G (TIA1)
NR_147223.1:n.1708T>G (TIA1)
NR_147224.1:n.1586T>G (TIA1)
NR_147225.1:n.1741T>G (TIA1)
NR_147226.1:n.1589T>G (TIA1)
NR_147227.1:n.1659T>G (TIA1)
NR_147228.1:n.1622T>G (TIA1)
NR_147229.1:n.1565T>G (TIA1)
NR_147230.1:n.1807T>G (TIA1)
NR_147231.1:n.1619T>G (TIA1)
NR_147232.1:n.1492T>G (TIA1)
XM_005264528.5:c.931T>G (TIA1)	XP_005264585.1:p.Ser311Ala
XM_005264531.2:c.823T>G (TIA1)	XP_005264588.1:p.Ser275Ala
XM_011533082.2:c.826T>G (TIA1)	XP_011531384.1:p.Ser276Ala
XM_017004792.1:c.826T>G (TIA1)	XP_016860281.1:p.Ser276Ala
XM_017004793.2:c.826T>G (TIA1)	XP_016860282.1:p.Ser276Ala
XM_017004794.1:c.826T>G (TIA1)	XP_016860283.1:p.Ser276Ala
XM_017004795.1:c.823T>G (TIA1)	XP_016860284.1:p.Ser275Ala
XM_017004796.1:c.706T>G (TIA1)	XP_016860285.1:p.Ser236Ala
XM_017004800.1:c.706T>G (TIA1)	XP_016860289.1:p.Ser236Ala
XM_024453063.1:c.706T>G (TIA1)	XP_024308831.1:p.Ser236Ala
XM_024453064.1:c.706T>G (TIA1)	XP_024308832.1:p.Ser236Ala
XM_024453065.1:c.706T>G (TIA1)	XP_024308833.1:p.Ser236Ala
XM_024453066.1:c.706T>G (TIA1)	XP_024308834.1:p.Ser236Ala
XM_024453067.1:c.703T>G (TIA1)	XP_024308835.1:p.Ser235Ala
XR_002959329.1:n.4710T>G (TIA1)
XR_002959330.1:n.2544T>G (TIA1)
XR_002959331.1:n.4707T>G (TIA1)
XR_002959332.1:n.2250T>G (TIA1)
NM_022173.4:c.1126T>G (TIA1) MANE Select	NP_071505.2:p.Ser376Ala
NM_001351508.2:c.1123T>G (TIA1)	NP_001338437.1:p.Ser375Ala
NM_001351509.2:c.1099T>G (TIA1)	NP_001338438.1:p.Ser367Ala
NM_001351510.2:c.1090T>G (TIA1)	NP_001338439.1:p.Ser364Ala
NM_001351514.2:c.898T>G (TIA1)	NP_001338443.1:p.Ser300Ala
NM_001351515.2:c.823T>G (TIA1)	NP_001338444.1:p.Ser275Ala
NM_001351517.2:c.703T>G (TIA1)	NP_001338446.1:p.Ser235Ala
NM_001351524.2:c.706T>G (TIA1)	NP_001338453.1:p.Ser236Ala
NM_001351525.2:c.706T>G (TIA1)	NP_001338454.1:p.Ser236Ala
NM_022037.4:c.1093T>G (TIA1)	NP_071320.2:p.Ser365Ala
NR_147219.2:n.1433T>G (TIA1)
NR_147220.2:n.1419T>G (TIA1)
NR_147221.2:n.1490T>G (TIA1)
NR_147222.2:n.1485T>G (TIA1)
NR_147223.2:n.1543T>G (TIA1)
NR_147224.2:n.1421T>G (TIA1)
NR_147225.2:n.1576T>G (TIA1)
NR_147226.2:n.1424T>G (TIA1)
NR_147227.2:n.1494T>G (TIA1)
NR_147228.2:n.1457T>G (TIA1)
NR_147229.2:n.1400T>G (TIA1)
NR_147230.2:n.1642T>G (TIA1)
NR_147231.2:n.1454T>G (TIA1)
NR_147232.2:n.1327T>G (TIA1)