Canonical Allele Identifier: CA355414315
Gene: EIF4G1 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs1577235451

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184327287G>A , CM000665.2:g.184327287G>A GRCh38
NC_000003.11:g.184045075G>A , CM000665.1:g.184045075G>A GRCh37
NC_000003.10:g.185527769G>A NCBI36
NG_016850.1:g.17720G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000346169.7:c.3500G>A (EIF4G1) MANE Select ENSP00000316879.5:p.Gly1167Glu
ENST00000435046.7:c.3434G>A (EIF4G1) ENSP00000404754.3:p.Gly1145Glu
ENST00000676453.1:c.2847G>A (EIF4G1) ENSP00000501695.1:n.2847G>A
ENST00000319274.10:c.2905G>A (EIF4G1) ENSP00000323737.7:p.Glu969Lys
ENST00000342981.8:c.3503G>A (EIF4G1) ENSP00000343450.4:p.Gly1168Glu
ENST00000346169.6:c.3500G>A (EIF4G1) ENSP00000316879.4:p.Gly1167Glu
ENST00000350481.9:c.3008G>A (EIF4G1) ENSP00000317600.8:p.Gly1003Glu
ENST00000352767.7:c.3521G>A (EIF4G1) ENSP00000338020.4:p.Gly1174Glu
ENST00000382330.7:c.3521G>A (EIF4G1) ENSP00000371767.3:p.Gly1174Glu
ENST00000392537.6:c.3239G>A (EIF4G1) ENSP00000376320.2:p.Gly1080Glu
ENST00000411531.5:c.3383G>A (EIF4G1) ENSP00000395974.1:p.Gly1128Glu
ENST00000414031.5:c.3380G>A (EIF4G1) ENSP00000391935.1:p.Gly1127Glu
ENST00000424196.5:c.3521G>A (EIF4G1) ENSP00000416255.1:p.Gly1174Glu
ENST00000427845.5:c.3242G>A (EIF4G1) ENSP00000407682.1:p.Gly1081Glu
ENST00000434061.6:c.2915G>A (EIF4G1) ENSP00000411826.2:p.Gly972Glu
ENST00000435046.6:c.2912G>A (EIF4G1) ENSP00000404754.2:p.Gly971Glu
ENST00000441154.5:c.3011G>A (EIF4G1) ENSP00000399858.1:p.Gly1004Glu
ENST00000442406.5:c.*2939G>A (EIF4G1) ENSP00000400351.1:n.*2939G>A
ENST00000444495.1:c.2106+182580G>A (EIF2B5) ENSP00000409142.1:n.2106+182580G>A
ENST00000448284.1:c.661G>A (EIF4G1)
ENST00000482303.1:n.2G>A (EIF4G1)
NM_001194946.1:c.3521G>A (EIF4G1) NP_001181875.1:p.Gly1174Glu
NM_001194947.1:c.3521G>A (EIF4G1) NP_001181876.1:p.Gly1174Glu
NM_001291157.1:c.3380G>A (EIF4G1) NP_001278086.1:p.Gly1127Glu
NM_004953.4:c.2915G>A (EIF4G1) NP_004944.3:p.Gly972Glu
NM_182917.4:c.3503G>A (EIF4G1) NP_886553.3:p.Gly1168Glu
NM_198241.2:c.3500G>A (EIF4G1) NP_937884.1:p.Gly1167Glu
NM_198242.2:c.3008G>A (EIF4G1) NP_937885.1:p.Gly1003Glu
NM_198244.2:c.3239G>A (EIF4G1) NP_937887.1:p.Gly1080Glu
NM_001194946.2:c.3521G>A (EIF4G1) NP_001181875.2:p.Gly1174Glu
NM_001291157.2:c.3380G>A (EIF4G1) NP_001278086.2:p.Gly1127Glu
NM_004953.5:c.2915G>A (EIF4G1) NP_004944.3:p.Gly972Glu
NM_198241.3:c.3500G>A (EIF4G1) MANE Select NP_937884.2:p.Gly1167Glu
NM_198242.3:c.3008G>A (EIF4G1) NP_937885.1:p.Gly1003Glu
NM_198244.3:c.3239G>A (EIF4G1) NP_937887.2:p.Gly1080Glu
NM_001194947.2:c.3521G>A (EIF4G1) NP_001181876.2:p.Gly1174Glu