Canonical Allele Identifier: CA355416057

Gene: EIF4G1 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184045440A>C (hg19) ; chr3:g.184327652A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327652A>C , CM000665.2:g.184327652A>C	GRCh38
NC_000003.11:g.184045440A>C , CM000665.1:g.184045440A>C	GRCh37
NC_000003.10:g.185528134A>C	NCBI36
NG_016850.1:g.18085A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3728A>C (EIF4G1) MANE Select	ENSP00000316879.5:p.Glu1243Ala
ENST00000435046.7:c.3662A>C (EIF4G1)	ENSP00000404754.3:p.Glu1221Ala
ENST00000676453.1:c.3075A>C (EIF4G1)	ENSP00000501695.1:n.3075A>C
ENST00000319274.10:c.3131A>C (EIF4G1)	ENSP00000323737.7:p.Glu1044Ala
ENST00000342981.8:c.3731A>C (EIF4G1)	ENSP00000343450.4:p.Glu1244Ala
ENST00000346169.6:c.3728A>C (EIF4G1)	ENSP00000316879.4:p.Glu1243Ala
ENST00000350481.9:c.3236A>C (EIF4G1)	ENSP00000317600.8:p.Glu1079Ala
ENST00000352767.7:c.3749A>C (EIF4G1)	ENSP00000338020.4:p.Glu1250Ala
ENST00000382330.7:c.3749A>C (EIF4G1)	ENSP00000371767.3:p.Glu1250Ala
ENST00000392537.6:c.3467A>C (EIF4G1)	ENSP00000376320.2:p.Glu1156Ala
ENST00000411531.5:c.3611A>C (EIF4G1)	ENSP00000395974.1:p.Glu1204Ala
ENST00000414031.5:c.3608A>C (EIF4G1)	ENSP00000391935.1:p.Glu1203Ala
ENST00000424196.5:c.3749A>C (EIF4G1)	ENSP00000416255.1:p.Glu1250Ala
ENST00000427845.5:c.3470A>C (EIF4G1)	ENSP00000407682.1:p.Glu1157Ala
ENST00000434061.6:c.3143A>C (EIF4G1)	ENSP00000411826.2:p.Glu1048Ala
ENST00000435046.6:c.3140A>C (EIF4G1)	ENSP00000404754.2:p.Glu1047Ala
ENST00000441154.5:c.3239A>C (EIF4G1)	ENSP00000399858.1:p.Glu1080Ala
ENST00000442406.5:c.*3167A>C (EIF4G1)	ENSP00000400351.1:n.*3167A>C
ENST00000444495.1:c.2106+182945A>C (EIF2B5)	ENSP00000409142.1:n.2106+182945A>C
ENST00000482303.1:n.230A>C (EIF4G1)
NM_001194946.1:c.3749A>C (EIF4G1)	NP_001181875.1:p.Glu1250Ala
NM_001194947.1:c.3749A>C (EIF4G1)	NP_001181876.1:p.Glu1250Ala
NM_001291157.1:c.3608A>C (EIF4G1)	NP_001278086.1:p.Glu1203Ala
NM_004953.4:c.3143A>C (EIF4G1)	NP_004944.3:p.Glu1048Ala
NM_182917.4:c.3731A>C (EIF4G1)	NP_886553.3:p.Glu1244Ala
NM_198241.2:c.3728A>C (EIF4G1)	NP_937884.1:p.Glu1243Ala
NM_198242.2:c.3236A>C (EIF4G1)	NP_937885.1:p.Glu1079Ala
NM_198244.2:c.3467A>C (EIF4G1)	NP_937887.1:p.Glu1156Ala
NM_001194946.2:c.3749A>C (EIF4G1)	NP_001181875.2:p.Glu1250Ala
NM_001291157.2:c.3608A>C (EIF4G1)	NP_001278086.2:p.Glu1203Ala
NM_004953.5:c.3143A>C (EIF4G1)	NP_004944.3:p.Glu1048Ala
NM_198241.3:c.3728A>C (EIF4G1) MANE Select	NP_937884.2:p.Glu1243Ala
NM_198242.3:c.3236A>C (EIF4G1)	NP_937885.1:p.Glu1079Ala
NM_198244.3:c.3467A>C (EIF4G1)	NP_937887.2:p.Glu1156Ala
NM_001194947.2:c.3749A>C (EIF4G1)	NP_001181876.2:p.Glu1250Ala