Canonical Allele Identifier: CA2732832
Gene: EIF4G1 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs200560380

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184327304C>T , CM000665.2:g.184327304C>T GRCh38
NC_000003.11:g.184045092C>T , CM000665.1:g.184045092C>T GRCh37
NC_000003.10:g.185527786C>T NCBI36
NG_016850.1:g.17737C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346169.7:c.3517C>T (EIF4G1) MANE Select ENSP00000316879.5:p.Arg1173Trp
ENST00000435046.7:c.3451C>T (EIF4G1) ENSP00000404754.3:p.Arg1151Trp
ENST00000676453.1:c.2864C>T (EIF4G1) ENSP00000501695.1:n.2864C>T
ENST00000319274.10:c.2922C>T (EIF4G1) ENSP00000323737.7:p.Thr974=
ENST00000342981.8:c.3520C>T (EIF4G1) ENSP00000343450.4:p.Arg1174Trp
ENST00000346169.6:c.3517C>T (EIF4G1) ENSP00000316879.4:p.Arg1173Trp
ENST00000350481.9:c.3025C>T (EIF4G1) ENSP00000317600.8:p.Arg1009Trp
ENST00000352767.7:c.3538C>T (EIF4G1) ENSP00000338020.4:p.Arg1180Trp
ENST00000382330.7:c.3538C>T (EIF4G1) ENSP00000371767.3:p.Arg1180Trp
ENST00000392537.6:c.3256C>T (EIF4G1) ENSP00000376320.2:p.Arg1086Trp
ENST00000411531.5:c.3400C>T (EIF4G1) ENSP00000395974.1:p.Arg1134Trp
ENST00000414031.5:c.3397C>T (EIF4G1) ENSP00000391935.1:p.Arg1133Trp
ENST00000424196.5:c.3538C>T (EIF4G1) ENSP00000416255.1:p.Arg1180Trp
ENST00000427845.5:c.3259C>T (EIF4G1) ENSP00000407682.1:p.Arg1087Trp
ENST00000434061.6:c.2932C>T (EIF4G1) ENSP00000411826.2:p.Arg978Trp
ENST00000435046.6:c.2929C>T (EIF4G1) ENSP00000404754.2:p.Arg977Trp
ENST00000441154.5:c.3028C>T (EIF4G1) ENSP00000399858.1:p.Arg1010Trp
ENST00000442406.5:c.*2956C>T (EIF4G1) ENSP00000400351.1:n.*2956C>T
ENST00000444495.1:c.2106+182597C>T (EIF2B5) ENSP00000409142.1:n.2106+182597C>T
ENST00000482303.1:n.19C>T (EIF4G1)
NM_001194946.1:c.3538C>T (EIF4G1) NP_001181875.1:p.Arg1180Trp
NM_001194947.1:c.3538C>T (EIF4G1) NP_001181876.1:p.Arg1180Trp
NM_001291157.1:c.3397C>T (EIF4G1) NP_001278086.1:p.Arg1133Trp
NM_004953.4:c.2932C>T (EIF4G1) NP_004944.3:p.Arg978Trp
NM_182917.4:c.3520C>T (EIF4G1) NP_886553.3:p.Arg1174Trp
NM_198241.2:c.3517C>T (EIF4G1) NP_937884.1:p.Arg1173Trp
NM_198242.2:c.3025C>T (EIF4G1) NP_937885.1:p.Arg1009Trp
NM_198244.2:c.3256C>T (EIF4G1) NP_937887.1:p.Arg1086Trp
NM_001194946.2:c.3538C>T (EIF4G1) NP_001181875.2:p.Arg1180Trp
NM_001291157.2:c.3397C>T (EIF4G1) NP_001278086.2:p.Arg1133Trp
NM_004953.5:c.2932C>T (EIF4G1) NP_004944.3:p.Arg978Trp
NM_198241.3:c.3517C>T (EIF4G1) MANE Select NP_937884.2:p.Arg1173Trp
NM_198242.3:c.3025C>T (EIF4G1) NP_937885.1:p.Arg1009Trp
NM_198244.3:c.3256C>T (EIF4G1) NP_937887.2:p.Arg1086Trp
NM_001194947.2:c.3538C>T (EIF4G1) NP_001181876.2:p.Arg1180Trp