Canonical Allele Identifier: CA355413132
Gene: EIF4G1 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184326908G>T , CM000665.2:g.184326908G>T GRCh38
NC_000003.11:g.184044696G>T , CM000665.1:g.184044696G>T GRCh37
NC_000003.10:g.185527390G>T NCBI36
NG_016850.1:g.17341G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346169.7:c.3353G>T (EIF4G1) MANE Select ENSP00000316879.5:p.Ser1118Ile
ENST00000435046.7:c.3287G>T (EIF4G1) ENSP00000404754.3:p.Ser1096Ile
ENST00000676453.1:c.2700G>T (EIF4G1) ENSP00000501695.1:n.2700G>T
ENST00000319274.10:c.2759G>T (EIF4G1) ENSP00000323737.7:p.Ser920Ile
ENST00000342981.8:c.3356G>T (EIF4G1) ENSP00000343450.4:p.Ser1119Ile
ENST00000346169.6:c.3353G>T (EIF4G1) ENSP00000316879.4:p.Ser1118Ile
ENST00000350481.9:c.2861G>T (EIF4G1) ENSP00000317600.8:p.Ser954Ile
ENST00000352767.7:c.3374G>T (EIF4G1) ENSP00000338020.4:p.Ser1125Ile
ENST00000382330.7:c.3374G>T (EIF4G1) ENSP00000371767.3:p.Ser1125Ile
ENST00000392537.6:c.3092G>T (EIF4G1) ENSP00000376320.2:p.Ser1031Ile
ENST00000411531.5:c.3236G>T (EIF4G1) ENSP00000395974.1:p.Ser1079Ile
ENST00000414031.5:c.3233G>T (EIF4G1) ENSP00000391935.1:p.Ser1078Ile
ENST00000424196.5:c.3374G>T (EIF4G1) ENSP00000416255.1:p.Ser1125Ile
ENST00000427845.5:c.3095G>T (EIF4G1) ENSP00000407682.1:p.Ser1032Ile
ENST00000434061.6:c.2768G>T (EIF4G1) ENSP00000411826.2:p.Ser923Ile
ENST00000435046.6:c.2765G>T (EIF4G1) ENSP00000404754.2:p.Ser922Ile
ENST00000441154.5:c.2864G>T (EIF4G1) ENSP00000399858.1:p.Ser955Ile
ENST00000442406.5:c.*2792G>T (EIF4G1) ENSP00000400351.1:n.*2792G>T
ENST00000444495.1:c.2106+182201G>T (EIF2B5) ENSP00000409142.1:n.2106+182201G>T
ENST00000448284.1:c.514G>T (EIF4G1)
ENST00000466311.1:n.573G>T (EIF4G1)
NM_001194946.1:c.3374G>T (EIF4G1) NP_001181875.1:p.Ser1125Ile
NM_001194947.1:c.3374G>T (EIF4G1) NP_001181876.1:p.Ser1125Ile
NM_001291157.1:c.3233G>T (EIF4G1) NP_001278086.1:p.Ser1078Ile
NM_004953.4:c.2768G>T (EIF4G1) NP_004944.3:p.Ser923Ile
NM_182917.4:c.3356G>T (EIF4G1) NP_886553.3:p.Ser1119Ile
NM_198241.2:c.3353G>T (EIF4G1) NP_937884.1:p.Ser1118Ile
NM_198242.2:c.2861G>T (EIF4G1) NP_937885.1:p.Ser954Ile
NM_198244.2:c.3092G>T (EIF4G1) NP_937887.1:p.Ser1031Ile
NM_001194946.2:c.3374G>T (EIF4G1) NP_001181875.2:p.Ser1125Ile
NM_001291157.2:c.3233G>T (EIF4G1) NP_001278086.2:p.Ser1078Ile
NM_004953.5:c.2768G>T (EIF4G1) NP_004944.3:p.Ser923Ile
NM_198241.3:c.3353G>T (EIF4G1) MANE Select NP_937884.2:p.Ser1118Ile
NM_198242.3:c.2861G>T (EIF4G1) NP_937885.1:p.Ser954Ile
NM_198244.3:c.3092G>T (EIF4G1) NP_937887.2:p.Ser1031Ile
NM_001194947.2:c.3374G>T (EIF4G1) NP_001181876.2:p.Ser1125Ile