Canonical Allele Identifier: CA355413456

Gene: EIF4G1 EIF2B5

Linked Data

• COSMIC: COSM280759
• MyVariant Identifiers: chr3:g.184044740G>T (hg19) ; chr3:g.184326952G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184326952G>T , CM000665.2:g.184326952G>T	GRCh38
NC_000003.11:g.184044740G>T , CM000665.1:g.184044740G>T	GRCh37
NC_000003.10:g.185527434G>T	NCBI36
NG_016850.1:g.17385G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3397G>T (EIF4G1) MANE Select	ENSP00000316879.5:p.Glu1133Ter
ENST00000435046.7:c.3331G>T (EIF4G1)	ENSP00000404754.3:p.Glu1111Ter
ENST00000676453.1:c.2744G>T (EIF4G1)	ENSP00000501695.1:n.2744G>T
ENST00000319274.10:c.2803G>T (EIF4G1)	ENSP00000323737.7:p.Glu935Ter
ENST00000342981.8:c.3400G>T (EIF4G1)	ENSP00000343450.4:p.Glu1134Ter
ENST00000346169.6:c.3397G>T (EIF4G1)	ENSP00000316879.4:p.Glu1133Ter
ENST00000350481.9:c.2905G>T (EIF4G1)	ENSP00000317600.8:p.Glu969Ter
ENST00000352767.7:c.3418G>T (EIF4G1)	ENSP00000338020.4:p.Glu1140Ter
ENST00000382330.7:c.3418G>T (EIF4G1)	ENSP00000371767.3:p.Glu1140Ter
ENST00000392537.6:c.3136G>T (EIF4G1)	ENSP00000376320.2:p.Glu1046Ter
ENST00000411531.5:c.3280G>T (EIF4G1)	ENSP00000395974.1:p.Glu1094Ter
ENST00000414031.5:c.3277G>T (EIF4G1)	ENSP00000391935.1:p.Glu1093Ter
ENST00000424196.5:c.3418G>T (EIF4G1)	ENSP00000416255.1:p.Glu1140Ter
ENST00000427845.5:c.3139G>T (EIF4G1)	ENSP00000407682.1:p.Glu1047Ter
ENST00000434061.6:c.2812G>T (EIF4G1)	ENSP00000411826.2:p.Glu938Ter
ENST00000435046.6:c.2809G>T (EIF4G1)	ENSP00000404754.2:p.Glu937Ter
ENST00000441154.5:c.2908G>T (EIF4G1)	ENSP00000399858.1:p.Glu970Ter
ENST00000442406.5:c.*2836G>T (EIF4G1)	ENSP00000400351.1:n.*2836G>T
ENST00000444495.1:c.2106+182245G>T (EIF2B5)	ENSP00000409142.1:n.2106+182245G>T
ENST00000448284.1:c.558G>T (EIF4G1)
NM_001194946.1:c.3418G>T (EIF4G1)	NP_001181875.1:p.Glu1140Ter
NM_001194947.1:c.3418G>T (EIF4G1)	NP_001181876.1:p.Glu1140Ter
NM_001291157.1:c.3277G>T (EIF4G1)	NP_001278086.1:p.Glu1093Ter
NM_004953.4:c.2812G>T (EIF4G1)	NP_004944.3:p.Glu938Ter
NM_182917.4:c.3400G>T (EIF4G1)	NP_886553.3:p.Glu1134Ter
NM_198241.2:c.3397G>T (EIF4G1)	NP_937884.1:p.Glu1133Ter
NM_198242.2:c.2905G>T (EIF4G1)	NP_937885.1:p.Glu969Ter
NM_198244.2:c.3136G>T (EIF4G1)	NP_937887.1:p.Glu1046Ter
NM_001194946.2:c.3418G>T (EIF4G1)	NP_001181875.2:p.Glu1140Ter
NM_001291157.2:c.3277G>T (EIF4G1)	NP_001278086.2:p.Glu1093Ter
NM_004953.5:c.2812G>T (EIF4G1)	NP_004944.3:p.Glu938Ter
NM_198241.3:c.3397G>T (EIF4G1) MANE Select	NP_937884.2:p.Glu1133Ter
NM_198242.3:c.2905G>T (EIF4G1)	NP_937885.1:p.Glu969Ter
NM_198244.3:c.3136G>T (EIF4G1)	NP_937887.2:p.Glu1046Ter
NM_001194947.2:c.3418G>T (EIF4G1)	NP_001181876.2:p.Glu1140Ter