Canonical Allele Identifier: CA49624437
Community Standard Title: NM_022173.4(TIA1):c.1032T>C (p.Phe344=)
Gene: TIA1 HGNC NCBI
C2orf42 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70214351A>G , CM000664.2:g.70214351A>G GRCh38
NC_000002.11:g.70441483A>G , CM000664.1:g.70441483A>G GRCh37
NC_000002.10:g.70294987A>G NCBI36
NG_029967.1:g.39297T>C

Transcript Alleles

HGVS Amino-acid Change
NM_022173.4:c.1032T>C (TIA1) MANE Select NP_071505.2:p.Phe344=
ENST00000433529.7:c.1032T>C (TIA1) MANE Select ENSP00000401371.2:p.Phe344=
NM_001351508.1:c.1029T>C (TIA1) NP_001338437.1:p.Phe343=
NM_001351508.2:c.1029T>C (TIA1) NP_001338437.1:p.Phe343=
NM_001351509.1:c.1005T>C (TIA1) NP_001338438.1:p.Phe335=
NM_001351509.2:c.1005T>C (TIA1) NP_001338438.1:p.Phe335=
NM_001351510.1:c.996T>C (TIA1) NP_001338439.1:p.Phe332=
NM_001351510.2:c.996T>C (TIA1) NP_001338439.1:p.Phe332=
NM_001351511.1:c.921T>C (TIA1) NP_001338440.1:p.Phe307=
NM_001351512.1:c.894T>C (TIA1) NP_001338441.1:p.Phe298=
NM_001351513.1:c.888T>C (TIA1) NP_001338442.1:p.Phe296=
NM_001351514.1:c.804T>C (TIA1) NP_001338443.1:p.Phe268=
NM_001351514.2:c.804T>C (TIA1) NP_001338443.1:p.Phe268=
NM_001351515.1:c.729T>C (TIA1) NP_001338444.1:p.Phe243=
NM_001351515.2:c.729T>C (TIA1) NP_001338444.1:p.Phe243=
NM_001351517.1:c.609T>C (TIA1) NP_001338446.1:p.Phe203=
NM_001351517.2:c.609T>C (TIA1) NP_001338446.1:p.Phe203=
NM_001351524.1:c.612T>C (TIA1) NP_001338453.1:p.Phe204=
NM_001351524.2:c.612T>C (TIA1) NP_001338453.1:p.Phe204=
NM_001351525.1:c.612T>C (TIA1) NP_001338454.1:p.Phe204=
NM_001351525.2:c.612T>C (TIA1) NP_001338454.1:p.Phe204=
NM_022037.2:c.999T>C (TIA1) NP_071320.2:p.Phe333=
NM_022037.3:c.999T>C (TIA1) NP_071320.2:p.Phe333=
NM_022037.4:c.999T>C (TIA1) NP_071320.2:p.Phe333=
NM_022173.2:c.1032T>C (TIA1) NP_071505.2:p.Phe344=
NM_022173.3:c.1032T>C (TIA1) NP_071505.2:p.Phe344=
NR_147216.1:n.1389T>C (TIA1)
NR_147217.1:n.1270T>C (TIA1)
NR_147218.1:n.1267T>C (TIA1)
NR_147219.1:n.1504T>C (TIA1)
NR_147219.2:n.1339T>C (TIA1)
NR_147220.1:n.1490T>C (TIA1)
NR_147220.2:n.1325T>C (TIA1)
NR_147221.1:n.1561T>C (TIA1)
NR_147221.2:n.1396T>C (TIA1)
NR_147222.1:n.1556T>C (TIA1)
NR_147222.2:n.1391T>C (TIA1)
NR_147223.1:n.1614T>C (TIA1)
NR_147223.2:n.1449T>C (TIA1)
NR_147224.1:n.1492T>C (TIA1)
NR_147224.2:n.1327T>C (TIA1)
NR_147225.1:n.1647T>C (TIA1)
NR_147225.2:n.1482T>C (TIA1)
NR_147226.1:n.1495T>C (TIA1)
NR_147226.2:n.1330T>C (TIA1)
NR_147227.1:n.1565T>C (TIA1)
NR_147227.2:n.1400T>C (TIA1)
NR_147228.1:n.1528T>C (TIA1)
NR_147228.2:n.1363T>C (TIA1)
NR_147229.1:n.1471T>C (TIA1)
NR_147229.2:n.1306T>C (TIA1)
NR_147230.1:n.1713T>C (TIA1)
NR_147230.2:n.1548T>C (TIA1)
NR_147231.1:n.1525T>C (TIA1)
NR_147231.2:n.1360T>C (TIA1)
NR_147232.1:n.1398T>C (TIA1)
NR_147232.2:n.1233T>C (TIA1)
ENST00000282574.8:c.1029T>C (TIA1) ENSP00000282574.4:p.Phe343=
ENST00000415783.6:c.999T>C (TIA1) ENSP00000404023.2:p.Phe333=
ENST00000433529.6:c.1032T>C (TIA1) ENSP00000401371.2:p.Phe344=
ENST00000445587.5:c.732-1506T>C (TIA1) ENSP00000399567.1:n.732-1506T>C
ENST00000470096.1:n.212-32354T>C (C2orf42)
ENST00000486392.5:n.342T>C (TIA1)
ENST00000495774.1:n.434T>C (TIA1)
XM_005264527.1:c.996T>C (TIA1) XP_005264584.1:p.Phe332=
XM_005264528.3:c.837T>C (TIA1) XP_005264585.1:p.Phe279=
XM_005264528.5:c.837T>C (TIA1) XP_005264585.1:p.Phe279=
XM_005264531.1:c.729T>C (TIA1) XP_005264588.1:p.Phe243=
XM_005264531.2:c.729T>C (TIA1) XP_005264588.1:p.Phe243=
XM_011533077.1:c.1029T>C (TIA1) XP_011531379.1:p.Phe343=
XM_011533078.1:c.732T>C (TIA1) XP_011531380.1:p.Phe244=
XM_011533079.1:c.732T>C (TIA1) XP_011531381.1:p.Phe244=
XM_011533080.1:c.732T>C (TIA1) XP_011531382.1:p.Phe244=
XM_011533081.1:c.732T>C (TIA1) XP_011531383.1:p.Phe244=
XM_011533082.1:c.732T>C (TIA1) XP_011531384.1:p.Phe244=
XM_011533082.2:c.732T>C (TIA1) XP_011531384.1:p.Phe244=
XM_011533083.1:c.612T>C (TIA1) XP_011531385.1:p.Phe204=
XM_017004792.1:c.732T>C (TIA1) XP_016860281.1:p.Phe244=
XM_017004793.2:c.732T>C (TIA1) XP_016860282.1:p.Phe244=
XM_017004794.1:c.732T>C (TIA1) XP_016860283.1:p.Phe244=
XM_017004795.1:c.729T>C (TIA1) XP_016860284.1:p.Phe243=
XM_017004796.1:c.612T>C (TIA1) XP_016860285.1:p.Phe204=
XM_017004800.1:c.612T>C (TIA1) XP_016860289.1:p.Phe204=
XM_024453063.1:c.612T>C (TIA1) XP_024308831.1:p.Phe204=
XM_024453064.1:c.612T>C (TIA1) XP_024308832.1:p.Phe204=
XM_024453065.1:c.612T>C (TIA1) XP_024308833.1:p.Phe204=
XM_024453066.1:c.612T>C (TIA1) XP_024308834.1:p.Phe204=
XM_024453067.1:c.609T>C (TIA1) XP_024308835.1:p.Phe203=
XR_002959329.1:n.4616T>C (TIA1)
XR_002959330.1:n.2450T>C (TIA1)
XR_002959331.1:n.4613T>C (TIA1)
XR_002959332.1:n.2156T>C (TIA1)
XR_244955.1:n.1389T>C (TIA1)
XR_939714.1:n.1368T>C (TIA1)