Canonical Allele Identifier: CA347149102

Gene: TIA1 C2orf42

Linked Data

• MyVariant Identifiers: chr2:g.70439891T>G (hg19) ; chr2:g.70212759T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70212759T>G , CM000664.2:g.70212759T>G	GRCh38
NC_000002.11:g.70439891T>G , CM000664.1:g.70439891T>G	GRCh37
NC_000002.10:g.70293395T>G	NCBI36
NG_029967.1:g.40889A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433529.7:c.1121A>C (TIA1) MANE Select	ENSP00000401371.2:p.Gln374Pro
ENST00000282574.8:c.1118A>C (TIA1)	ENSP00000282574.4:p.Gln373Pro
ENST00000415783.6:c.1088A>C (TIA1)	ENSP00000404023.2:p.Gln363Pro
ENST00000433529.6:c.1121A>C (TIA1)	ENSP00000401371.2:p.Gln374Pro
ENST00000445587.5:c.818A>C (TIA1)	ENSP00000399567.1:p.Gln273Pro
ENST00000470096.1:n.212-30762A>C (C2orf42)
ENST00000486392.5:n.431A>C (TIA1)
ENST00000495774.1:n.523A>C (TIA1)
NM_022037.2:c.1088A>C (TIA1)	NP_071320.2:p.Gln363Pro
NM_022173.2:c.1121A>C (TIA1)	NP_071505.2:p.Gln374Pro
XM_005264527.1:c.1085A>C (TIA1)	XP_005264584.1:p.Gln362Pro
XM_005264528.3:c.926A>C (TIA1)	XP_005264585.1:p.Gln309Pro
XM_005264531.1:c.818A>C (TIA1)	XP_005264588.1:p.Gln273Pro
XM_011533077.1:c.1118A>C (TIA1)	XP_011531379.1:p.Gln373Pro
XM_011533078.1:c.821A>C (TIA1)	XP_011531380.1:p.Gln274Pro
XM_011533079.1:c.821A>C (TIA1)	XP_011531381.1:p.Gln274Pro
XM_011533080.1:c.821A>C (TIA1)	XP_011531382.1:p.Gln274Pro
XM_011533081.1:c.821A>C (TIA1)	XP_011531383.1:p.Gln274Pro
XM_011533082.1:c.821A>C (TIA1)	XP_011531384.1:p.Gln274Pro
XM_011533083.1:c.701A>C (TIA1)	XP_011531385.1:p.Gln234Pro
XR_244955.1:n.1478A>C (TIA1)
XR_939714.1:n.1457A>C (TIA1)
NM_001351508.1:c.1118A>C (TIA1)	NP_001338437.1:p.Gln373Pro
NM_001351509.1:c.1094A>C (TIA1)	NP_001338438.1:p.Gln365Pro
NM_001351510.1:c.1085A>C (TIA1)	NP_001338439.1:p.Gln362Pro
NM_001351511.1:c.1010A>C (TIA1)	NP_001338440.1:p.Gln337Pro
NM_001351512.1:c.983A>C (TIA1)	NP_001338441.1:p.Gln328Pro
NM_001351513.1:c.977A>C (TIA1)	NP_001338442.1:p.Gln326Pro
NM_001351514.1:c.893A>C (TIA1)	NP_001338443.1:p.Gln298Pro
NM_001351515.1:c.818A>C (TIA1)	NP_001338444.1:p.Gln273Pro
NM_001351517.1:c.698A>C (TIA1)	NP_001338446.1:p.Gln233Pro
NM_001351524.1:c.701A>C (TIA1)	NP_001338453.1:p.Gln234Pro
NM_001351525.1:c.701A>C (TIA1)	NP_001338454.1:p.Gln234Pro
NM_022037.3:c.1088A>C (TIA1)	NP_071320.2:p.Gln363Pro
NM_022173.3:c.1121A>C (TIA1)	NP_071505.2:p.Gln374Pro
NR_147216.1:n.1478A>C (TIA1)
NR_147217.1:n.1359A>C (TIA1)
NR_147218.1:n.1356A>C (TIA1)
NR_147219.1:n.1593A>C (TIA1)
NR_147220.1:n.1579A>C (TIA1)
NR_147221.1:n.1650A>C (TIA1)
NR_147222.1:n.1645A>C (TIA1)
NR_147223.1:n.1703A>C (TIA1)
NR_147224.1:n.1581A>C (TIA1)
NR_147225.1:n.1736A>C (TIA1)
NR_147226.1:n.1584A>C (TIA1)
NR_147227.1:n.1654A>C (TIA1)
NR_147228.1:n.1617A>C (TIA1)
NR_147229.1:n.1560A>C (TIA1)
NR_147230.1:n.1802A>C (TIA1)
NR_147231.1:n.1614A>C (TIA1)
NR_147232.1:n.1487A>C (TIA1)
XM_005264528.5:c.926A>C (TIA1)	XP_005264585.1:p.Gln309Pro
XM_005264531.2:c.818A>C (TIA1)	XP_005264588.1:p.Gln273Pro
XM_011533082.2:c.821A>C (TIA1)	XP_011531384.1:p.Gln274Pro
XM_017004792.1:c.821A>C (TIA1)	XP_016860281.1:p.Gln274Pro
XM_017004793.2:c.821A>C (TIA1)	XP_016860282.1:p.Gln274Pro
XM_017004794.1:c.821A>C (TIA1)	XP_016860283.1:p.Gln274Pro
XM_017004795.1:c.818A>C (TIA1)	XP_016860284.1:p.Gln273Pro
XM_017004796.1:c.701A>C (TIA1)	XP_016860285.1:p.Gln234Pro
XM_017004800.1:c.701A>C (TIA1)	XP_016860289.1:p.Gln234Pro
XM_024453063.1:c.701A>C (TIA1)	XP_024308831.1:p.Gln234Pro
XM_024453064.1:c.701A>C (TIA1)	XP_024308832.1:p.Gln234Pro
XM_024453065.1:c.701A>C (TIA1)	XP_024308833.1:p.Gln234Pro
XM_024453066.1:c.701A>C (TIA1)	XP_024308834.1:p.Gln234Pro
XM_024453067.1:c.698A>C (TIA1)	XP_024308835.1:p.Gln233Pro
XR_002959329.1:n.4705A>C (TIA1)
XR_002959330.1:n.2539A>C (TIA1)
XR_002959331.1:n.4702A>C (TIA1)
XR_002959332.1:n.2245A>C (TIA1)
NM_022173.4:c.1121A>C (TIA1) MANE Select	NP_071505.2:p.Gln374Pro
NM_001351508.2:c.1118A>C (TIA1)	NP_001338437.1:p.Gln373Pro
NM_001351509.2:c.1094A>C (TIA1)	NP_001338438.1:p.Gln365Pro
NM_001351510.2:c.1085A>C (TIA1)	NP_001338439.1:p.Gln362Pro
NM_001351514.2:c.893A>C (TIA1)	NP_001338443.1:p.Gln298Pro
NM_001351515.2:c.818A>C (TIA1)	NP_001338444.1:p.Gln273Pro
NM_001351517.2:c.698A>C (TIA1)	NP_001338446.1:p.Gln233Pro
NM_001351524.2:c.701A>C (TIA1)	NP_001338453.1:p.Gln234Pro
NM_001351525.2:c.701A>C (TIA1)	NP_001338454.1:p.Gln234Pro
NM_022037.4:c.1088A>C (TIA1)	NP_071320.2:p.Gln363Pro
NR_147219.2:n.1428A>C (TIA1)
NR_147220.2:n.1414A>C (TIA1)
NR_147221.2:n.1485A>C (TIA1)
NR_147222.2:n.1480A>C (TIA1)
NR_147223.2:n.1538A>C (TIA1)
NR_147224.2:n.1416A>C (TIA1)
NR_147225.2:n.1571A>C (TIA1)
NR_147226.2:n.1419A>C (TIA1)
NR_147227.2:n.1489A>C (TIA1)
NR_147228.2:n.1452A>C (TIA1)
NR_147229.2:n.1395A>C (TIA1)
NR_147230.2:n.1637A>C (TIA1)
NR_147231.2:n.1449A>C (TIA1)
NR_147232.2:n.1322A>C (TIA1)