Canonical Allele Identifier: CA355413019

Gene: EIF4G1 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184044680G>A (hg19) ; chr3:g.184326892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184326892G>A , CM000665.2:g.184326892G>A	GRCh38
NC_000003.11:g.184044680G>A , CM000665.1:g.184044680G>A	GRCh37
NC_000003.10:g.185527374G>A	NCBI36
NG_016850.1:g.17325G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3337G>A (EIF4G1) MANE Select	ENSP00000316879.5:p.Ala1113Thr
ENST00000435046.7:c.3271G>A (EIF4G1)	ENSP00000404754.3:p.Ala1091Thr
ENST00000676453.1:c.2684G>A (EIF4G1)	ENSP00000501695.1:n.2684G>A
ENST00000319274.10:c.2743G>A (EIF4G1)	ENSP00000323737.7:p.Ala915Thr
ENST00000342981.8:c.3340G>A (EIF4G1)	ENSP00000343450.4:p.Ala1114Thr
ENST00000346169.6:c.3337G>A (EIF4G1)	ENSP00000316879.4:p.Ala1113Thr
ENST00000350481.9:c.2845G>A (EIF4G1)	ENSP00000317600.8:p.Ala949Thr
ENST00000352767.7:c.3358G>A (EIF4G1)	ENSP00000338020.4:p.Ala1120Thr
ENST00000382330.7:c.3358G>A (EIF4G1)	ENSP00000371767.3:p.Ala1120Thr
ENST00000392537.6:c.3076G>A (EIF4G1)	ENSP00000376320.2:p.Ala1026Thr
ENST00000411531.5:c.3220G>A (EIF4G1)	ENSP00000395974.1:p.Ala1074Thr
ENST00000414031.5:c.3217G>A (EIF4G1)	ENSP00000391935.1:p.Ala1073Thr
ENST00000424196.5:c.3358G>A (EIF4G1)	ENSP00000416255.1:p.Ala1120Thr
ENST00000427845.5:c.3079G>A (EIF4G1)	ENSP00000407682.1:p.Ala1027Thr
ENST00000434061.6:c.2752G>A (EIF4G1)	ENSP00000411826.2:p.Ala918Thr
ENST00000435046.6:c.2749G>A (EIF4G1)	ENSP00000404754.2:p.Ala917Thr
ENST00000441154.5:c.2848G>A (EIF4G1)	ENSP00000399858.1:p.Ala950Thr
ENST00000442406.5:c.*2776G>A (EIF4G1)	ENSP00000400351.1:n.*2776G>A
ENST00000444495.1:c.2106+182185G>A (EIF2B5)	ENSP00000409142.1:n.2106+182185G>A
ENST00000448284.1:c.498G>A (EIF4G1)
ENST00000466311.1:n.557G>A (EIF4G1)
NM_001194946.1:c.3358G>A (EIF4G1)	NP_001181875.1:p.Ala1120Thr
NM_001194947.1:c.3358G>A (EIF4G1)	NP_001181876.1:p.Ala1120Thr
NM_001291157.1:c.3217G>A (EIF4G1)	NP_001278086.1:p.Ala1073Thr
NM_004953.4:c.2752G>A (EIF4G1)	NP_004944.3:p.Ala918Thr
NM_182917.4:c.3340G>A (EIF4G1)	NP_886553.3:p.Ala1114Thr
NM_198241.2:c.3337G>A (EIF4G1)	NP_937884.1:p.Ala1113Thr
NM_198242.2:c.2845G>A (EIF4G1)	NP_937885.1:p.Ala949Thr
NM_198244.2:c.3076G>A (EIF4G1)	NP_937887.1:p.Ala1026Thr
NM_001194946.2:c.3358G>A (EIF4G1)	NP_001181875.2:p.Ala1120Thr
NM_001291157.2:c.3217G>A (EIF4G1)	NP_001278086.2:p.Ala1073Thr
NM_004953.5:c.2752G>A (EIF4G1)	NP_004944.3:p.Ala918Thr
NM_198241.3:c.3337G>A (EIF4G1) MANE Select	NP_937884.2:p.Ala1113Thr
NM_198242.3:c.2845G>A (EIF4G1)	NP_937885.1:p.Ala949Thr
NM_198244.3:c.3076G>A (EIF4G1)	NP_937887.2:p.Ala1026Thr
NM_001194947.2:c.3358G>A (EIF4G1)	NP_001181876.2:p.Ala1120Thr