Canonical Allele Identifier: CA347148997

Gene: TIA1 C2orf42

Linked Data

• MyVariant Identifiers: chr2:g.70439863A>C (hg19) ; chr2:g.70212731A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70212731A>C , CM000664.2:g.70212731A>C	GRCh38
NC_000002.11:g.70439863A>C , CM000664.1:g.70439863A>C	GRCh37
NC_000002.10:g.70293367A>C	NCBI36
NG_029967.1:g.40917T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433529.7:c.1149T>G (TIA1) MANE Select	ENSP00000401371.2:p.Tyr383Ter
ENST00000282574.8:c.1146T>G (TIA1)	ENSP00000282574.4:p.Tyr382Ter
ENST00000415783.6:c.1116T>G (TIA1)	ENSP00000404023.2:p.Tyr372Ter
ENST00000433529.6:c.1149T>G (TIA1)	ENSP00000401371.2:p.Tyr383Ter
ENST00000445587.5:c.846T>G (TIA1)	ENSP00000399567.1:p.Tyr282Ter
ENST00000470096.1:n.212-30734T>G (C2orf42)
ENST00000486392.5:n.459T>G (TIA1)
NM_022037.2:c.1116T>G (TIA1)	NP_071320.2:p.Tyr372Ter
NM_022173.2:c.1149T>G (TIA1)	NP_071505.2:p.Tyr383Ter
XM_005264527.1:c.1113T>G (TIA1)	XP_005264584.1:p.Tyr371Ter
XM_005264528.3:c.954T>G (TIA1)	XP_005264585.1:p.Tyr318Ter
XM_005264531.1:c.846T>G (TIA1)	XP_005264588.1:p.Tyr282Ter
XM_011533077.1:c.1146T>G (TIA1)	XP_011531379.1:p.Tyr382Ter
XM_011533078.1:c.849T>G (TIA1)	XP_011531380.1:p.Tyr283Ter
XM_011533079.1:c.849T>G (TIA1)	XP_011531381.1:p.Tyr283Ter
XM_011533080.1:c.849T>G (TIA1)	XP_011531382.1:p.Tyr283Ter
XM_011533081.1:c.849T>G (TIA1)	XP_011531383.1:p.Tyr283Ter
XM_011533082.1:c.849T>G (TIA1)	XP_011531384.1:p.Tyr283Ter
XM_011533083.1:c.729T>G (TIA1)	XP_011531385.1:p.Tyr243Ter
XR_244955.1:n.1506T>G (TIA1)
XR_939714.1:n.1485T>G (TIA1)
NM_001351508.1:c.1146T>G (TIA1)	NP_001338437.1:p.Tyr382Ter
NM_001351509.1:c.1122T>G (TIA1)	NP_001338438.1:p.Tyr374Ter
NM_001351510.1:c.1113T>G (TIA1)	NP_001338439.1:p.Tyr371Ter
NM_001351511.1:c.1038T>G (TIA1)	NP_001338440.1:p.Tyr346Ter
NM_001351512.1:c.1011T>G (TIA1)	NP_001338441.1:p.Tyr337Ter
NM_001351513.1:c.1005T>G (TIA1)	NP_001338442.1:p.Tyr335Ter
NM_001351514.1:c.921T>G (TIA1)	NP_001338443.1:p.Tyr307Ter
NM_001351515.1:c.846T>G (TIA1)	NP_001338444.1:p.Tyr282Ter
NM_001351517.1:c.726T>G (TIA1)	NP_001338446.1:p.Tyr242Ter
NM_001351524.1:c.729T>G (TIA1)	NP_001338453.1:p.Tyr243Ter
NM_001351525.1:c.729T>G (TIA1)	NP_001338454.1:p.Tyr243Ter
NM_022037.3:c.1116T>G (TIA1)	NP_071320.2:p.Tyr372Ter
NM_022173.3:c.1149T>G (TIA1)	NP_071505.2:p.Tyr383Ter
NR_147216.1:n.1506T>G (TIA1)
NR_147217.1:n.1387T>G (TIA1)
NR_147218.1:n.1384T>G (TIA1)
NR_147219.1:n.1621T>G (TIA1)
NR_147220.1:n.1607T>G (TIA1)
NR_147221.1:n.1678T>G (TIA1)
NR_147222.1:n.1673T>G (TIA1)
NR_147223.1:n.1731T>G (TIA1)
NR_147224.1:n.1609T>G (TIA1)
NR_147225.1:n.1764T>G (TIA1)
NR_147226.1:n.1612T>G (TIA1)
NR_147227.1:n.1682T>G (TIA1)
NR_147228.1:n.1645T>G (TIA1)
NR_147229.1:n.1588T>G (TIA1)
NR_147230.1:n.1830T>G (TIA1)
NR_147231.1:n.1642T>G (TIA1)
NR_147232.1:n.1515T>G (TIA1)
XM_005264528.5:c.954T>G (TIA1)	XP_005264585.1:p.Tyr318Ter
XM_005264531.2:c.846T>G (TIA1)	XP_005264588.1:p.Tyr282Ter
XM_011533082.2:c.849T>G (TIA1)	XP_011531384.1:p.Tyr283Ter
XM_017004792.1:c.849T>G (TIA1)	XP_016860281.1:p.Tyr283Ter
XM_017004793.2:c.849T>G (TIA1)	XP_016860282.1:p.Tyr283Ter
XM_017004794.1:c.849T>G (TIA1)	XP_016860283.1:p.Tyr283Ter
XM_017004795.1:c.846T>G (TIA1)	XP_016860284.1:p.Tyr282Ter
XM_017004796.1:c.729T>G (TIA1)	XP_016860285.1:p.Tyr243Ter
XM_017004800.1:c.729T>G (TIA1)	XP_016860289.1:p.Tyr243Ter
XM_024453063.1:c.729T>G (TIA1)	XP_024308831.1:p.Tyr243Ter
XM_024453064.1:c.729T>G (TIA1)	XP_024308832.1:p.Tyr243Ter
XM_024453065.1:c.729T>G (TIA1)	XP_024308833.1:p.Tyr243Ter
XM_024453066.1:c.729T>G (TIA1)	XP_024308834.1:p.Tyr243Ter
XM_024453067.1:c.726T>G (TIA1)	XP_024308835.1:p.Tyr242Ter
XR_002959329.1:n.4733T>G (TIA1)
XR_002959330.1:n.2567T>G (TIA1)
XR_002959331.1:n.4730T>G (TIA1)
XR_002959332.1:n.2273T>G (TIA1)
NM_022173.4:c.1149T>G (TIA1) MANE Select	NP_071505.2:p.Tyr383Ter
NM_001351508.2:c.1146T>G (TIA1)	NP_001338437.1:p.Tyr382Ter
NM_001351509.2:c.1122T>G (TIA1)	NP_001338438.1:p.Tyr374Ter
NM_001351510.2:c.1113T>G (TIA1)	NP_001338439.1:p.Tyr371Ter
NM_001351514.2:c.921T>G (TIA1)	NP_001338443.1:p.Tyr307Ter
NM_001351515.2:c.846T>G (TIA1)	NP_001338444.1:p.Tyr282Ter
NM_001351517.2:c.726T>G (TIA1)	NP_001338446.1:p.Tyr242Ter
NM_001351524.2:c.729T>G (TIA1)	NP_001338453.1:p.Tyr243Ter
NM_001351525.2:c.729T>G (TIA1)	NP_001338454.1:p.Tyr243Ter
NM_022037.4:c.1116T>G (TIA1)	NP_071320.2:p.Tyr372Ter
NR_147219.2:n.1456T>G (TIA1)
NR_147220.2:n.1442T>G (TIA1)
NR_147221.2:n.1513T>G (TIA1)
NR_147222.2:n.1508T>G (TIA1)
NR_147223.2:n.1566T>G (TIA1)
NR_147224.2:n.1444T>G (TIA1)
NR_147225.2:n.1599T>G (TIA1)
NR_147226.2:n.1447T>G (TIA1)
NR_147227.2:n.1517T>G (TIA1)
NR_147228.2:n.1480T>G (TIA1)
NR_147229.2:n.1423T>G (TIA1)
NR_147230.2:n.1665T>G (TIA1)
NR_147231.2:n.1477T>G (TIA1)
NR_147232.2:n.1350T>G (TIA1)