Canonical Allele Identifier: CA437330550
Gene: EIF4G1 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.184045393A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184327605A>G , CM000665.2:g.184327605A>G GRCh38
NC_000003.11:g.184045393A>G , CM000665.1:g.184045393A>G GRCh37
NC_000003.10:g.185528087A>G NCBI36
NG_016850.1:g.18038A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346169.7:c.3681A>G (EIF4G1) MANE Select ENSP00000316879.5:p.Leu1227=
ENST00000435046.7:c.3615A>G (EIF4G1) ENSP00000404754.3:p.Leu1205=
ENST00000676453.1:c.3028A>G (EIF4G1) ENSP00000501695.1:n.3028A>G
ENST00000319274.10:c.3084A>G (EIF4G1) ENSP00000323737.7:p.Leu1028=
ENST00000342981.8:c.3684A>G (EIF4G1) ENSP00000343450.4:p.Leu1228=
ENST00000346169.6:c.3681A>G (EIF4G1) ENSP00000316879.4:p.Leu1227=
ENST00000350481.9:c.3189A>G (EIF4G1) ENSP00000317600.8:p.Leu1063=
ENST00000352767.7:c.3702A>G (EIF4G1) ENSP00000338020.4:p.Leu1234=
ENST00000382330.7:c.3702A>G (EIF4G1) ENSP00000371767.3:p.Leu1234=
ENST00000392537.6:c.3420A>G (EIF4G1) ENSP00000376320.2:p.Leu1140=
ENST00000411531.5:c.3564A>G (EIF4G1) ENSP00000395974.1:p.Leu1188=
ENST00000414031.5:c.3561A>G (EIF4G1) ENSP00000391935.1:p.Leu1187=
ENST00000424196.5:c.3702A>G (EIF4G1) ENSP00000416255.1:p.Leu1234=
ENST00000427845.5:c.3423A>G (EIF4G1) ENSP00000407682.1:p.Leu1141=
ENST00000434061.6:c.3096A>G (EIF4G1) ENSP00000411826.2:p.Leu1032=
ENST00000435046.6:c.3093A>G (EIF4G1) ENSP00000404754.2:p.Leu1031=
ENST00000441154.5:c.3192A>G (EIF4G1) ENSP00000399858.1:p.Leu1064=
ENST00000442406.5:c.*3120A>G (EIF4G1) ENSP00000400351.1:n.*3120A>G
ENST00000444495.1:c.2106+182898A>G (EIF2B5) ENSP00000409142.1:n.2106+182898A>G
ENST00000482303.1:n.183A>G (EIF4G1)
NM_001194946.1:c.3702A>G (EIF4G1) NP_001181875.1:p.Leu1234=
NM_001194947.1:c.3702A>G (EIF4G1) NP_001181876.1:p.Leu1234=
NM_001291157.1:c.3561A>G (EIF4G1) NP_001278086.1:p.Leu1187=
NM_004953.4:c.3096A>G (EIF4G1) NP_004944.3:p.Leu1032=
NM_182917.4:c.3684A>G (EIF4G1) NP_886553.3:p.Leu1228=
NM_198241.2:c.3681A>G (EIF4G1) NP_937884.1:p.Leu1227=
NM_198242.2:c.3189A>G (EIF4G1) NP_937885.1:p.Leu1063=
NM_198244.2:c.3420A>G (EIF4G1) NP_937887.1:p.Leu1140=
NM_001194946.2:c.3702A>G (EIF4G1) NP_001181875.2:p.Leu1234=
NM_001291157.2:c.3561A>G (EIF4G1) NP_001278086.2:p.Leu1187=
NM_004953.5:c.3096A>G (EIF4G1) NP_004944.3:p.Leu1032=
NM_198241.3:c.3681A>G (EIF4G1) MANE Select NP_937884.2:p.Leu1227=
NM_198242.3:c.3189A>G (EIF4G1) NP_937885.1:p.Leu1063=
NM_198244.3:c.3420A>G (EIF4G1) NP_937887.2:p.Leu1140=
NM_001194947.2:c.3702A>G (EIF4G1) NP_001181876.2:p.Leu1234=