Canonical Allele Identifier: CA347148966

Gene: TIA1 C2orf42

Linked Data

• MyVariant Identifiers: chr2:g.70439855T>A (hg19) ; chr2:g.70212723T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70212723T>A , CM000664.2:g.70212723T>A	GRCh38
NC_000002.11:g.70439855T>A , CM000664.1:g.70439855T>A	GRCh37
NC_000002.10:g.70293359T>A	NCBI36
NG_029967.1:g.40925A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433529.7:c.1157A>T (TIA1) MANE Select	ENSP00000401371.2:p.Gln386Leu
ENST00000282574.8:c.1154A>T (TIA1)	ENSP00000282574.4:p.Gln385Leu
ENST00000415783.6:c.1124A>T (TIA1)	ENSP00000404023.2:p.Gln375Leu
ENST00000433529.6:c.1157A>T (TIA1)	ENSP00000401371.2:p.Gln386Leu
ENST00000445587.5:c.854A>T (TIA1)	ENSP00000399567.1:p.Gln285Leu
ENST00000470096.1:n.212-30726A>T (C2orf42)
ENST00000486392.5:n.467A>T (TIA1)
NM_022037.2:c.1124A>T (TIA1)	NP_071320.2:p.Gln375Leu
NM_022173.2:c.1157A>T (TIA1)	NP_071505.2:p.Gln386Leu
XM_005264527.1:c.1121A>T (TIA1)	XP_005264584.1:p.Gln374Leu
XM_005264528.3:c.962A>T (TIA1)	XP_005264585.1:p.Gln321Leu
XM_005264531.1:c.854A>T (TIA1)	XP_005264588.1:p.Gln285Leu
XM_011533077.1:c.1154A>T (TIA1)	XP_011531379.1:p.Gln385Leu
XM_011533078.1:c.857A>T (TIA1)	XP_011531380.1:p.Gln286Leu
XM_011533079.1:c.857A>T (TIA1)	XP_011531381.1:p.Gln286Leu
XM_011533080.1:c.857A>T (TIA1)	XP_011531382.1:p.Gln286Leu
XM_011533081.1:c.857A>T (TIA1)	XP_011531383.1:p.Gln286Leu
XM_011533082.1:c.857A>T (TIA1)	XP_011531384.1:p.Gln286Leu
XM_011533083.1:c.737A>T (TIA1)	XP_011531385.1:p.Gln246Leu
XR_244955.1:n.1514A>T (TIA1)
XR_939714.1:n.1493A>T (TIA1)
NM_001351508.1:c.1154A>T (TIA1)	NP_001338437.1:p.Gln385Leu
NM_001351509.1:c.1130A>T (TIA1)	NP_001338438.1:p.Gln377Leu
NM_001351510.1:c.1121A>T (TIA1)	NP_001338439.1:p.Gln374Leu
NM_001351511.1:c.1046A>T (TIA1)	NP_001338440.1:p.Gln349Leu
NM_001351512.1:c.1019A>T (TIA1)	NP_001338441.1:p.Gln340Leu
NM_001351513.1:c.1013A>T (TIA1)	NP_001338442.1:p.Gln338Leu
NM_001351514.1:c.929A>T (TIA1)	NP_001338443.1:p.Gln310Leu
NM_001351515.1:c.854A>T (TIA1)	NP_001338444.1:p.Gln285Leu
NM_001351517.1:c.734A>T (TIA1)	NP_001338446.1:p.Gln245Leu
NM_001351524.1:c.737A>T (TIA1)	NP_001338453.1:p.Gln246Leu
NM_001351525.1:c.737A>T (TIA1)	NP_001338454.1:p.Gln246Leu
NM_022037.3:c.1124A>T (TIA1)	NP_071320.2:p.Gln375Leu
NM_022173.3:c.1157A>T (TIA1)	NP_071505.2:p.Gln386Leu
NR_147216.1:n.1514A>T (TIA1)
NR_147217.1:n.1395A>T (TIA1)
NR_147218.1:n.1392A>T (TIA1)
NR_147219.1:n.1629A>T (TIA1)
NR_147220.1:n.1615A>T (TIA1)
NR_147221.1:n.1686A>T (TIA1)
NR_147222.1:n.1681A>T (TIA1)
NR_147223.1:n.1739A>T (TIA1)
NR_147224.1:n.1617A>T (TIA1)
NR_147225.1:n.1772A>T (TIA1)
NR_147226.1:n.1620A>T (TIA1)
NR_147227.1:n.1690A>T (TIA1)
NR_147228.1:n.1653A>T (TIA1)
NR_147229.1:n.1596A>T (TIA1)
NR_147230.1:n.1838A>T (TIA1)
NR_147231.1:n.1650A>T (TIA1)
NR_147232.1:n.1523A>T (TIA1)
XM_005264528.5:c.962A>T (TIA1)	XP_005264585.1:p.Gln321Leu
XM_005264531.2:c.854A>T (TIA1)	XP_005264588.1:p.Gln285Leu
XM_011533082.2:c.857A>T (TIA1)	XP_011531384.1:p.Gln286Leu
XM_017004792.1:c.857A>T (TIA1)	XP_016860281.1:p.Gln286Leu
XM_017004793.2:c.857A>T (TIA1)	XP_016860282.1:p.Gln286Leu
XM_017004794.1:c.857A>T (TIA1)	XP_016860283.1:p.Gln286Leu
XM_017004795.1:c.854A>T (TIA1)	XP_016860284.1:p.Gln285Leu
XM_017004796.1:c.737A>T (TIA1)	XP_016860285.1:p.Gln246Leu
XM_017004800.1:c.737A>T (TIA1)	XP_016860289.1:p.Gln246Leu
XM_024453063.1:c.737A>T (TIA1)	XP_024308831.1:p.Gln246Leu
XM_024453064.1:c.737A>T (TIA1)	XP_024308832.1:p.Gln246Leu
XM_024453065.1:c.737A>T (TIA1)	XP_024308833.1:p.Gln246Leu
XM_024453066.1:c.737A>T (TIA1)	XP_024308834.1:p.Gln246Leu
XM_024453067.1:c.734A>T (TIA1)	XP_024308835.1:p.Gln245Leu
XR_002959329.1:n.4741A>T (TIA1)
XR_002959330.1:n.2575A>T (TIA1)
XR_002959331.1:n.4738A>T (TIA1)
XR_002959332.1:n.2281A>T (TIA1)
NM_022173.4:c.1157A>T (TIA1) MANE Select	NP_071505.2:p.Gln386Leu
NM_001351508.2:c.1154A>T (TIA1)	NP_001338437.1:p.Gln385Leu
NM_001351509.2:c.1130A>T (TIA1)	NP_001338438.1:p.Gln377Leu
NM_001351510.2:c.1121A>T (TIA1)	NP_001338439.1:p.Gln374Leu
NM_001351514.2:c.929A>T (TIA1)	NP_001338443.1:p.Gln310Leu
NM_001351515.2:c.854A>T (TIA1)	NP_001338444.1:p.Gln285Leu
NM_001351517.2:c.734A>T (TIA1)	NP_001338446.1:p.Gln245Leu
NM_001351524.2:c.737A>T (TIA1)	NP_001338453.1:p.Gln246Leu
NM_001351525.2:c.737A>T (TIA1)	NP_001338454.1:p.Gln246Leu
NM_022037.4:c.1124A>T (TIA1)	NP_071320.2:p.Gln375Leu
NR_147219.2:n.1464A>T (TIA1)
NR_147220.2:n.1450A>T (TIA1)
NR_147221.2:n.1521A>T (TIA1)
NR_147222.2:n.1516A>T (TIA1)
NR_147223.2:n.1574A>T (TIA1)
NR_147224.2:n.1452A>T (TIA1)
NR_147225.2:n.1607A>T (TIA1)
NR_147226.2:n.1455A>T (TIA1)
NR_147227.2:n.1525A>T (TIA1)
NR_147228.2:n.1488A>T (TIA1)
NR_147229.2:n.1431A>T (TIA1)
NR_147230.2:n.1673A>T (TIA1)
NR_147231.2:n.1485A>T (TIA1)
NR_147232.2:n.1358A>T (TIA1)