Canonical Allele Identifier: CA355415771
Gene: EIF4G1 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs781199378

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184327607C>A , CM000665.2:g.184327607C>A GRCh38
NC_000003.11:g.184045395C>A , CM000665.1:g.184045395C>A GRCh37
NC_000003.10:g.185528089C>A NCBI36
NG_016850.1:g.18040C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346169.7:c.3683C>A (EIF4G1) MANE Select ENSP00000316879.5:p.Pro1228His
ENST00000435046.7:c.3617C>A (EIF4G1) ENSP00000404754.3:p.Pro1206His
ENST00000676453.1:c.3030C>A (EIF4G1) ENSP00000501695.1:n.3030C>A
ENST00000319274.10:c.3086C>A (EIF4G1) ENSP00000323737.7:p.Pro1029His
ENST00000342981.8:c.3686C>A (EIF4G1) ENSP00000343450.4:p.Pro1229His
ENST00000346169.6:c.3683C>A (EIF4G1) ENSP00000316879.4:p.Pro1228His
ENST00000350481.9:c.3191C>A (EIF4G1) ENSP00000317600.8:p.Pro1064His
ENST00000352767.7:c.3704C>A (EIF4G1) ENSP00000338020.4:p.Pro1235His
ENST00000382330.7:c.3704C>A (EIF4G1) ENSP00000371767.3:p.Pro1235His
ENST00000392537.6:c.3422C>A (EIF4G1) ENSP00000376320.2:p.Pro1141His
ENST00000411531.5:c.3566C>A (EIF4G1) ENSP00000395974.1:p.Pro1189His
ENST00000414031.5:c.3563C>A (EIF4G1) ENSP00000391935.1:p.Pro1188His
ENST00000424196.5:c.3704C>A (EIF4G1) ENSP00000416255.1:p.Pro1235His
ENST00000427845.5:c.3425C>A (EIF4G1) ENSP00000407682.1:p.Pro1142His
ENST00000434061.6:c.3098C>A (EIF4G1) ENSP00000411826.2:p.Pro1033His
ENST00000435046.6:c.3095C>A (EIF4G1) ENSP00000404754.2:p.Pro1032His
ENST00000441154.5:c.3194C>A (EIF4G1) ENSP00000399858.1:p.Pro1065His
ENST00000442406.5:c.*3122C>A (EIF4G1) ENSP00000400351.1:n.*3122C>A
ENST00000444495.1:c.2106+182900C>A (EIF2B5) ENSP00000409142.1:n.2106+182900C>A
ENST00000482303.1:n.185C>A (EIF4G1)
NM_001194946.1:c.3704C>A (EIF4G1) NP_001181875.1:p.Pro1235His
NM_001194947.1:c.3704C>A (EIF4G1) NP_001181876.1:p.Pro1235His
NM_001291157.1:c.3563C>A (EIF4G1) NP_001278086.1:p.Pro1188His
NM_004953.4:c.3098C>A (EIF4G1) NP_004944.3:p.Pro1033His
NM_182917.4:c.3686C>A (EIF4G1) NP_886553.3:p.Pro1229His
NM_198241.2:c.3683C>A (EIF4G1) NP_937884.1:p.Pro1228His
NM_198242.2:c.3191C>A (EIF4G1) NP_937885.1:p.Pro1064His
NM_198244.2:c.3422C>A (EIF4G1) NP_937887.1:p.Pro1141His
NM_001194946.2:c.3704C>A (EIF4G1) NP_001181875.2:p.Pro1235His
NM_001291157.2:c.3563C>A (EIF4G1) NP_001278086.2:p.Pro1188His
NM_004953.5:c.3098C>A (EIF4G1) NP_004944.3:p.Pro1033His
NM_198241.3:c.3683C>A (EIF4G1) MANE Select NP_937884.2:p.Pro1228His
NM_198242.3:c.3191C>A (EIF4G1) NP_937885.1:p.Pro1064His
NM_198244.3:c.3422C>A (EIF4G1) NP_937887.2:p.Pro1141His
NM_001194947.2:c.3704C>A (EIF4G1) NP_001181876.2:p.Pro1235His