Canonical Allele Identifier: CA2731758
Community Standard Title: NM_198241.3(EIF4G1):c.-35+13T>A
Gene: EIF4G1 HGNC NCBI
EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184315558T>A , CM000665.2:g.184315558T>A GRCh38
NC_000003.11:g.184033346T>A , CM000665.1:g.184033346T>A GRCh37
NC_000003.10:g.185516040T>A NCBI36
NG_016850.1:g.5991T>A

Transcript Alleles

HGVS Amino-acid Change
NM_198241.3:c.-35+13T>A (EIF4G1) MANE Select NP_937884.2:n.-35+13T>A
ENST00000346169.7:c.-35+13T>A (EIF4G1) MANE Select ENSP00000316879.5:n.-35+13T>A
NM_001194946.1:c.-35+13T>A (EIF4G1) NP_001181875.1:n.-35+13T>A
NM_001194946.2:c.-35+13T>A (EIF4G1) NP_001181875.2:n.-35+13T>A
NM_001194947.1:c.-34-205T>A (EIF4G1) NP_001181876.1:n.-34-205T>A
NM_001194947.2:c.-34-205T>A (EIF4G1) NP_001181876.2:n.-34-205T>A
NM_001291157.1:c.-215+13T>A (EIF4G1) NP_001278086.1:n.-215+13T>A
NM_001291157.2:c.-215+13T>A (EIF4G1) NP_001278086.2:n.-215+13T>A
NM_182917.4:c.-35+13T>A (EIF4G1) NP_886553.3:n.-35+13T>A
NM_198241.2:c.-35+13T>A (EIF4G1) NP_937884.1:n.-35+13T>A
NM_198242.2:c.-169+884T>A (EIF4G1) NP_937885.1:n.-169+884T>A
NM_198242.3:c.-169+884T>A (EIF4G1) NP_937885.1:n.-169+884T>A
NM_198244.2:c.-115+884T>A (EIF4G1) NP_937887.1:n.-115+884T>A
NM_198244.3:c.-115+884T>A (EIF4G1) NP_937887.2:n.-115+884T>A
ENST00000342981.8:c.-35+13T>A (EIF4G1) ENSP00000343450.4:n.-35+13T>A
ENST00000346169.6:c.-35+13T>A (EIF4G1) ENSP00000316879.4:n.-35+13T>A
ENST00000350481.9:c.-169+884T>A (EIF4G1) ENSP00000317600.8:n.-169+884T>A
ENST00000352767.7:c.-34-205T>A (EIF4G1) ENSP00000338020.4:n.-34-205T>A
ENST00000382330.7:c.-35+13T>A (EIF4G1) ENSP00000371767.3:n.-35+13T>A
ENST00000392537.6:c.-115+884T>A (EIF4G1) ENSP00000376320.2:n.-115+884T>A
ENST00000413967.5:c.-35+13T>A (EIF4G1) ENSP00000390755.1:n.-35+13T>A
ENST00000414031.5:c.-215+13T>A (EIF4G1) ENSP00000391935.1:n.-215+13T>A
ENST00000421110.5:c.-34-205T>A (EIF4G1) ENSP00000413159.1:n.-34-205T>A
ENST00000424196.5:c.-239T>A (EIF4G1) ENSP00000416255.1:n.-239T>A
ENST00000426123.5:c.-35+13T>A (EIF4G1) ENSP00000403269.1:n.-35+13T>A
ENST00000427141.6:c.-377+13T>A (EIF4G1) ENSP00000411214.2:n.-377+13T>A
ENST00000427845.5:c.-115+13T>A (EIF4G1) ENSP00000407682.1:n.-115+13T>A
ENST00000435046.7:c.-35+13T>A (EIF4G1) ENSP00000404754.3:n.-35+13T>A
ENST00000440448.5:c.-35+13T>A (EIF4G1) ENSP00000407240.1:n.-35+13T>A
ENST00000442406.5:c.-169+884T>A (EIF4G1) ENSP00000400351.1:n.-169+884T>A
ENST00000444134.5:c.-52+884T>A (EIF4G1) ENSP00000407244.1:n.-52+884T>A
ENST00000444495.1:c.2106+170851T>A (EIF2B5) ENSP00000409142.1:n.2106+170851T>A
ENST00000450424.5:c.-34-205T>A (EIF4G1) ENSP00000391412.1:n.-34-205T>A
ENST00000455679.5:c.-214-205T>A (EIF4G1) ENSP00000415842.1:n.-214-205T>A
ENST00000485712.5:n.119+13T>A (EIF4G1)