Canonical Allele Identifier: CA2732905
Gene: EIF4G1 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs773615250

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184327639G>C , CM000665.2:g.184327639G>C GRCh38
NC_000003.11:g.184045427G>C , CM000665.1:g.184045427G>C GRCh37
NC_000003.10:g.185528121G>C NCBI36
NG_016850.1:g.18072G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346169.7:c.3715G>C (EIF4G1) MANE Select ENSP00000316879.5:p.Glu1239Gln
ENST00000435046.7:c.3649G>C (EIF4G1) ENSP00000404754.3:p.Glu1217Gln
ENST00000676453.1:c.3062G>C (EIF4G1) ENSP00000501695.1:n.3062G>C
ENST00000319274.10:c.3118G>C (EIF4G1) ENSP00000323737.7:p.Glu1040Gln
ENST00000342981.8:c.3718G>C (EIF4G1) ENSP00000343450.4:p.Glu1240Gln
ENST00000346169.6:c.3715G>C (EIF4G1) ENSP00000316879.4:p.Glu1239Gln
ENST00000350481.9:c.3223G>C (EIF4G1) ENSP00000317600.8:p.Glu1075Gln
ENST00000352767.7:c.3736G>C (EIF4G1) ENSP00000338020.4:p.Glu1246Gln
ENST00000382330.7:c.3736G>C (EIF4G1) ENSP00000371767.3:p.Glu1246Gln
ENST00000392537.6:c.3454G>C (EIF4G1) ENSP00000376320.2:p.Glu1152Gln
ENST00000411531.5:c.3598G>C (EIF4G1) ENSP00000395974.1:p.Glu1200Gln
ENST00000414031.5:c.3595G>C (EIF4G1) ENSP00000391935.1:p.Glu1199Gln
ENST00000424196.5:c.3736G>C (EIF4G1) ENSP00000416255.1:p.Glu1246Gln
ENST00000427845.5:c.3457G>C (EIF4G1) ENSP00000407682.1:p.Glu1153Gln
ENST00000434061.6:c.3130G>C (EIF4G1) ENSP00000411826.2:p.Glu1044Gln
ENST00000435046.6:c.3127G>C (EIF4G1) ENSP00000404754.2:p.Glu1043Gln
ENST00000441154.5:c.3226G>C (EIF4G1) ENSP00000399858.1:p.Glu1076Gln
ENST00000442406.5:c.*3154G>C (EIF4G1) ENSP00000400351.1:n.*3154G>C
ENST00000444495.1:c.2106+182932G>C (EIF2B5) ENSP00000409142.1:n.2106+182932G>C
ENST00000482303.1:n.217G>C (EIF4G1)
NM_001194946.1:c.3736G>C (EIF4G1) NP_001181875.1:p.Glu1246Gln
NM_001194947.1:c.3736G>C (EIF4G1) NP_001181876.1:p.Glu1246Gln
NM_001291157.1:c.3595G>C (EIF4G1) NP_001278086.1:p.Glu1199Gln
NM_004953.4:c.3130G>C (EIF4G1) NP_004944.3:p.Glu1044Gln
NM_182917.4:c.3718G>C (EIF4G1) NP_886553.3:p.Glu1240Gln
NM_198241.2:c.3715G>C (EIF4G1) NP_937884.1:p.Glu1239Gln
NM_198242.2:c.3223G>C (EIF4G1) NP_937885.1:p.Glu1075Gln
NM_198244.2:c.3454G>C (EIF4G1) NP_937887.1:p.Glu1152Gln
NM_001194946.2:c.3736G>C (EIF4G1) NP_001181875.2:p.Glu1246Gln
NM_001291157.2:c.3595G>C (EIF4G1) NP_001278086.2:p.Glu1199Gln
NM_004953.5:c.3130G>C (EIF4G1) NP_004944.3:p.Glu1044Gln
NM_198241.3:c.3715G>C (EIF4G1) MANE Select NP_937884.2:p.Glu1239Gln
NM_198242.3:c.3223G>C (EIF4G1) NP_937885.1:p.Glu1075Gln
NM_198244.3:c.3454G>C (EIF4G1) NP_937887.2:p.Glu1152Gln
NM_001194947.2:c.3736G>C (EIF4G1) NP_001181876.2:p.Glu1246Gln