Canonical Allele Identifier: CA437330624

Gene: EIF4G1 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184045450C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327662C>G , CM000665.2:g.184327662C>G	GRCh38
NC_000003.11:g.184045450C>G , CM000665.1:g.184045450C>G	GRCh37
NC_000003.10:g.185528144C>G	NCBI36
NG_016850.1:g.18095C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3738C>G (EIF4G1) MANE Select	ENSP00000316879.5:p.Ser1246=
ENST00000435046.7:c.3672C>G (EIF4G1)	ENSP00000404754.3:p.Ser1224=
ENST00000676453.1:c.3085C>G (EIF4G1)	ENSP00000501695.1:n.3085C>G
ENST00000319274.10:c.3141C>G (EIF4G1)	ENSP00000323737.7:p.Ser1047=
ENST00000342981.8:c.3741C>G (EIF4G1)	ENSP00000343450.4:p.Ser1247=
ENST00000346169.6:c.3738C>G (EIF4G1)	ENSP00000316879.4:p.Ser1246=
ENST00000350481.9:c.3246C>G (EIF4G1)	ENSP00000317600.8:p.Ser1082=
ENST00000352767.7:c.3759C>G (EIF4G1)	ENSP00000338020.4:p.Ser1253=
ENST00000382330.7:c.3759C>G (EIF4G1)	ENSP00000371767.3:p.Ser1253=
ENST00000392537.6:c.3477C>G (EIF4G1)	ENSP00000376320.2:p.Ser1159=
ENST00000411531.5:c.3621C>G (EIF4G1)	ENSP00000395974.1:p.Ser1207=
ENST00000414031.5:c.3618C>G (EIF4G1)	ENSP00000391935.1:p.Ser1206=
ENST00000424196.5:c.3759C>G (EIF4G1)	ENSP00000416255.1:p.Ser1253=
ENST00000427845.5:c.3480C>G (EIF4G1)	ENSP00000407682.1:p.Ser1160=
ENST00000434061.6:c.3153C>G (EIF4G1)	ENSP00000411826.2:p.Ser1051=
ENST00000435046.6:c.3150C>G (EIF4G1)	ENSP00000404754.2:p.Ser1050=
ENST00000441154.5:c.3249C>G (EIF4G1)	ENSP00000399858.1:p.Ser1083=
ENST00000442406.5:c.*3177C>G (EIF4G1)	ENSP00000400351.1:n.*3177C>G
ENST00000444495.1:c.2106+182955C>G (EIF2B5)	ENSP00000409142.1:n.2106+182955C>G
ENST00000482303.1:n.240C>G (EIF4G1)
NM_001194946.1:c.3759C>G (EIF4G1)	NP_001181875.1:p.Ser1253=
NM_001194947.1:c.3759C>G (EIF4G1)	NP_001181876.1:p.Ser1253=
NM_001291157.1:c.3618C>G (EIF4G1)	NP_001278086.1:p.Ser1206=
NM_004953.4:c.3153C>G (EIF4G1)	NP_004944.3:p.Ser1051=
NM_182917.4:c.3741C>G (EIF4G1)	NP_886553.3:p.Ser1247=
NM_198241.2:c.3738C>G (EIF4G1)	NP_937884.1:p.Ser1246=
NM_198242.2:c.3246C>G (EIF4G1)	NP_937885.1:p.Ser1082=
NM_198244.2:c.3477C>G (EIF4G1)	NP_937887.1:p.Ser1159=
NM_001194946.2:c.3759C>G (EIF4G1)	NP_001181875.2:p.Ser1253=
NM_001291157.2:c.3618C>G (EIF4G1)	NP_001278086.2:p.Ser1206=
NM_004953.5:c.3153C>G (EIF4G1)	NP_004944.3:p.Ser1051=
NM_198241.3:c.3738C>G (EIF4G1) MANE Select	NP_937884.2:p.Ser1246=
NM_198242.3:c.3246C>G (EIF4G1)	NP_937885.1:p.Ser1082=
NM_198244.3:c.3477C>G (EIF4G1)	NP_937887.2:p.Ser1159=
NM_001194947.2:c.3759C>G (EIF4G1)	NP_001181876.2:p.Ser1253=