Canonical Allele Identifier: CA437330252

Gene: EIF4G1 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184045011T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327223T>C , CM000665.2:g.184327223T>C	GRCh38
NC_000003.11:g.184045011T>C , CM000665.1:g.184045011T>C	GRCh37
NC_000003.10:g.185527705T>C	NCBI36
NG_016850.1:g.17656T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3436T>C (EIF4G1) MANE Select	ENSP00000316879.5:p.Leu1146=
ENST00000435046.7:c.3370T>C (EIF4G1)	ENSP00000404754.3:p.Leu1124=
ENST00000676453.1:c.2783T>C (EIF4G1)	ENSP00000501695.1:n.2783T>C
ENST00000319274.10:c.2842T>C (EIF4G1)	ENSP00000323737.7:p.Leu948=
ENST00000342981.8:c.3439T>C (EIF4G1)	ENSP00000343450.4:p.Leu1147=
ENST00000346169.6:c.3436T>C (EIF4G1)	ENSP00000316879.4:p.Leu1146=
ENST00000350481.9:c.2944T>C (EIF4G1)	ENSP00000317600.8:p.Leu982=
ENST00000352767.7:c.3457T>C (EIF4G1)	ENSP00000338020.4:p.Leu1153=
ENST00000382330.7:c.3457T>C (EIF4G1)	ENSP00000371767.3:p.Leu1153=
ENST00000392537.6:c.3175T>C (EIF4G1)	ENSP00000376320.2:p.Leu1059=
ENST00000411531.5:c.3319T>C (EIF4G1)	ENSP00000395974.1:p.Leu1107=
ENST00000414031.5:c.3316T>C (EIF4G1)	ENSP00000391935.1:p.Leu1106=
ENST00000424196.5:c.3457T>C (EIF4G1)	ENSP00000416255.1:p.Leu1153=
ENST00000427845.5:c.3178T>C (EIF4G1)	ENSP00000407682.1:p.Leu1060=
ENST00000434061.6:c.2851T>C (EIF4G1)	ENSP00000411826.2:p.Leu951=
ENST00000435046.6:c.2848T>C (EIF4G1)	ENSP00000404754.2:p.Leu950=
ENST00000441154.5:c.2947T>C (EIF4G1)	ENSP00000399858.1:p.Leu983=
ENST00000442406.5:c.*2875T>C (EIF4G1)	ENSP00000400351.1:n.*2875T>C
ENST00000444495.1:c.2106+182516T>C (EIF2B5)	ENSP00000409142.1:n.2106+182516T>C
ENST00000448284.1:c.597T>C (EIF4G1)
NM_001194946.1:c.3457T>C (EIF4G1)	NP_001181875.1:p.Leu1153=
NM_001194947.1:c.3457T>C (EIF4G1)	NP_001181876.1:p.Leu1153=
NM_001291157.1:c.3316T>C (EIF4G1)	NP_001278086.1:p.Leu1106=
NM_004953.4:c.2851T>C (EIF4G1)	NP_004944.3:p.Leu951=
NM_182917.4:c.3439T>C (EIF4G1)	NP_886553.3:p.Leu1147=
NM_198241.2:c.3436T>C (EIF4G1)	NP_937884.1:p.Leu1146=
NM_198242.2:c.2944T>C (EIF4G1)	NP_937885.1:p.Leu982=
NM_198244.2:c.3175T>C (EIF4G1)	NP_937887.1:p.Leu1059=
NM_001194946.2:c.3457T>C (EIF4G1)	NP_001181875.2:p.Leu1153=
NM_001291157.2:c.3316T>C (EIF4G1)	NP_001278086.2:p.Leu1106=
NM_004953.5:c.2851T>C (EIF4G1)	NP_004944.3:p.Leu951=
NM_198241.3:c.3436T>C (EIF4G1) MANE Select	NP_937884.2:p.Leu1146=
NM_198242.3:c.2944T>C (EIF4G1)	NP_937885.1:p.Leu982=
NM_198244.3:c.3175T>C (EIF4G1)	NP_937887.2:p.Leu1059=
NM_001194947.2:c.3457T>C (EIF4G1)	NP_001181876.2:p.Leu1153=