Canonical Allele Identifier: CA347149093

Gene: TIA1 C2orf42

Linked Data

• MyVariant Identifiers: chr2:g.70439888G>C (hg19) ; chr2:g.70212756G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70212756G>C , CM000664.2:g.70212756G>C	GRCh38
NC_000002.11:g.70439888G>C , CM000664.1:g.70439888G>C	GRCh37
NC_000002.10:g.70293392G>C	NCBI36
NG_029967.1:g.40892C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433529.7:c.1124C>G (TIA1) MANE Select	ENSP00000401371.2:p.Pro375Arg
ENST00000282574.8:c.1121C>G (TIA1)	ENSP00000282574.4:p.Pro374Arg
ENST00000415783.6:c.1091C>G (TIA1)	ENSP00000404023.2:p.Pro364Arg
ENST00000433529.6:c.1124C>G (TIA1)	ENSP00000401371.2:p.Pro375Arg
ENST00000445587.5:c.821C>G (TIA1)	ENSP00000399567.1:p.Pro274Arg
ENST00000470096.1:n.212-30759C>G (C2orf42)
ENST00000486392.5:n.434C>G (TIA1)
ENST00000495774.1:n.526C>G (TIA1)
NM_022037.2:c.1091C>G (TIA1)	NP_071320.2:p.Pro364Arg
NM_022173.2:c.1124C>G (TIA1)	NP_071505.2:p.Pro375Arg
XM_005264527.1:c.1088C>G (TIA1)	XP_005264584.1:p.Pro363Arg
XM_005264528.3:c.929C>G (TIA1)	XP_005264585.1:p.Pro310Arg
XM_005264531.1:c.821C>G (TIA1)	XP_005264588.1:p.Pro274Arg
XM_011533077.1:c.1121C>G (TIA1)	XP_011531379.1:p.Pro374Arg
XM_011533078.1:c.824C>G (TIA1)	XP_011531380.1:p.Pro275Arg
XM_011533079.1:c.824C>G (TIA1)	XP_011531381.1:p.Pro275Arg
XM_011533080.1:c.824C>G (TIA1)	XP_011531382.1:p.Pro275Arg
XM_011533081.1:c.824C>G (TIA1)	XP_011531383.1:p.Pro275Arg
XM_011533082.1:c.824C>G (TIA1)	XP_011531384.1:p.Pro275Arg
XM_011533083.1:c.704C>G (TIA1)	XP_011531385.1:p.Pro235Arg
XR_244955.1:n.1481C>G (TIA1)
XR_939714.1:n.1460C>G (TIA1)
NM_001351508.1:c.1121C>G (TIA1)	NP_001338437.1:p.Pro374Arg
NM_001351509.1:c.1097C>G (TIA1)	NP_001338438.1:p.Pro366Arg
NM_001351510.1:c.1088C>G (TIA1)	NP_001338439.1:p.Pro363Arg
NM_001351511.1:c.1013C>G (TIA1)	NP_001338440.1:p.Pro338Arg
NM_001351512.1:c.986C>G (TIA1)	NP_001338441.1:p.Pro329Arg
NM_001351513.1:c.980C>G (TIA1)	NP_001338442.1:p.Pro327Arg
NM_001351514.1:c.896C>G (TIA1)	NP_001338443.1:p.Pro299Arg
NM_001351515.1:c.821C>G (TIA1)	NP_001338444.1:p.Pro274Arg
NM_001351517.1:c.701C>G (TIA1)	NP_001338446.1:p.Pro234Arg
NM_001351524.1:c.704C>G (TIA1)	NP_001338453.1:p.Pro235Arg
NM_001351525.1:c.704C>G (TIA1)	NP_001338454.1:p.Pro235Arg
NM_022037.3:c.1091C>G (TIA1)	NP_071320.2:p.Pro364Arg
NM_022173.3:c.1124C>G (TIA1)	NP_071505.2:p.Pro375Arg
NR_147216.1:n.1481C>G (TIA1)
NR_147217.1:n.1362C>G (TIA1)
NR_147218.1:n.1359C>G (TIA1)
NR_147219.1:n.1596C>G (TIA1)
NR_147220.1:n.1582C>G (TIA1)
NR_147221.1:n.1653C>G (TIA1)
NR_147222.1:n.1648C>G (TIA1)
NR_147223.1:n.1706C>G (TIA1)
NR_147224.1:n.1584C>G (TIA1)
NR_147225.1:n.1739C>G (TIA1)
NR_147226.1:n.1587C>G (TIA1)
NR_147227.1:n.1657C>G (TIA1)
NR_147228.1:n.1620C>G (TIA1)
NR_147229.1:n.1563C>G (TIA1)
NR_147230.1:n.1805C>G (TIA1)
NR_147231.1:n.1617C>G (TIA1)
NR_147232.1:n.1490C>G (TIA1)
XM_005264528.5:c.929C>G (TIA1)	XP_005264585.1:p.Pro310Arg
XM_005264531.2:c.821C>G (TIA1)	XP_005264588.1:p.Pro274Arg
XM_011533082.2:c.824C>G (TIA1)	XP_011531384.1:p.Pro275Arg
XM_017004792.1:c.824C>G (TIA1)	XP_016860281.1:p.Pro275Arg
XM_017004793.2:c.824C>G (TIA1)	XP_016860282.1:p.Pro275Arg
XM_017004794.1:c.824C>G (TIA1)	XP_016860283.1:p.Pro275Arg
XM_017004795.1:c.821C>G (TIA1)	XP_016860284.1:p.Pro274Arg
XM_017004796.1:c.704C>G (TIA1)	XP_016860285.1:p.Pro235Arg
XM_017004800.1:c.704C>G (TIA1)	XP_016860289.1:p.Pro235Arg
XM_024453063.1:c.704C>G (TIA1)	XP_024308831.1:p.Pro235Arg
XM_024453064.1:c.704C>G (TIA1)	XP_024308832.1:p.Pro235Arg
XM_024453065.1:c.704C>G (TIA1)	XP_024308833.1:p.Pro235Arg
XM_024453066.1:c.704C>G (TIA1)	XP_024308834.1:p.Pro235Arg
XM_024453067.1:c.701C>G (TIA1)	XP_024308835.1:p.Pro234Arg
XR_002959329.1:n.4708C>G (TIA1)
XR_002959330.1:n.2542C>G (TIA1)
XR_002959331.1:n.4705C>G (TIA1)
XR_002959332.1:n.2248C>G (TIA1)
NM_022173.4:c.1124C>G (TIA1) MANE Select	NP_071505.2:p.Pro375Arg
NM_001351508.2:c.1121C>G (TIA1)	NP_001338437.1:p.Pro374Arg
NM_001351509.2:c.1097C>G (TIA1)	NP_001338438.1:p.Pro366Arg
NM_001351510.2:c.1088C>G (TIA1)	NP_001338439.1:p.Pro363Arg
NM_001351514.2:c.896C>G (TIA1)	NP_001338443.1:p.Pro299Arg
NM_001351515.2:c.821C>G (TIA1)	NP_001338444.1:p.Pro274Arg
NM_001351517.2:c.701C>G (TIA1)	NP_001338446.1:p.Pro234Arg
NM_001351524.2:c.704C>G (TIA1)	NP_001338453.1:p.Pro235Arg
NM_001351525.2:c.704C>G (TIA1)	NP_001338454.1:p.Pro235Arg
NM_022037.4:c.1091C>G (TIA1)	NP_071320.2:p.Pro364Arg
NR_147219.2:n.1431C>G (TIA1)
NR_147220.2:n.1417C>G (TIA1)
NR_147221.2:n.1488C>G (TIA1)
NR_147222.2:n.1483C>G (TIA1)
NR_147223.2:n.1541C>G (TIA1)
NR_147224.2:n.1419C>G (TIA1)
NR_147225.2:n.1574C>G (TIA1)
NR_147226.2:n.1422C>G (TIA1)
NR_147227.2:n.1492C>G (TIA1)
NR_147228.2:n.1455C>G (TIA1)
NR_147229.2:n.1398C>G (TIA1)
NR_147230.2:n.1640C>G (TIA1)
NR_147231.2:n.1452C>G (TIA1)
NR_147232.2:n.1325C>G (TIA1)