Canonical Allele Identifier: CA425718934

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38987545T>C , CM000664.2:g.38987545T>C	GRCh38
NC_000002.11:g.39214686T>C , CM000664.1:g.39214686T>C	GRCh37
NC_000002.10:g.39068190T>C	NCBI36
NG_007530.1:g.137919A>G , LRG_754:g.137919A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3438A>G MANE Select	NP_005624.2:p.Glu1146=
ENST00000402219.8:c.3438A>G MANE Select	ENSP00000384675.2:p.Glu1146=
NM_001382394.1:c.3417A>G	NP_001369323.1:p.Glu1139=
NM_001382395.1:c.3393A>G	NP_001369324.1:p.Glu1131=
NM_005633.3:c.3438A>G , LRG_754t1:c.3438A>G	NP_005624.2:p.Glu1146=
ENST00000395038.6:c.3393A>G	ENSP00000378479.2:p.Glu1131=
ENST00000402219.6:c.3438A>G	ENSP00000384675.2:p.Glu1146=
ENST00000426016.5:c.3438A>G	ENSP00000387784.1:p.Glu1146=
ENST00000469581.1:n.181A>G
ENST00000685279.1:c.2205A>G	ENSP00000509424.1:p.Glu735=
ENST00000686849.1:n.229A>G
ENST00000690876.1:c.*744A>G	ENSP00000508955.1:n.*744A>G
ENST00000692089.1:c.3327A>G	ENSP00000508626.1:p.Glu1109=
ENST00000692227.1:c.1089A>G	ENSP00000509138.1:p.Glu363=
XM_005264515.3:c.3393A>G	XP_005264572.1:p.Glu1131=
XM_005264515.4:c.3393A>G	XP_005264572.1:p.Glu1131=
XM_011533060.1:c.3531A>G	XP_011531362.1:p.Glu1177=
XM_011533061.1:c.3486A>G	XP_011531363.1:p.Glu1162=
XM_011533062.1:c.3417A>G	XP_011531364.1:p.Glu1139=
XM_011533062.2:c.3417A>G	XP_011531364.1:p.Glu1139=
XM_011533063.1:c.3414A>G	XP_011531365.1:p.Glu1138=
XM_011533064.1:c.3267A>G	XP_011531366.1:p.Glu1089=
XM_011533064.2:c.3267A>G	XP_011531366.1:p.Glu1089=
XM_011533065.1:c.3531A>G	XP_011531367.1:p.Glu1177=
XM_011533066.1:c.2373A>G	XP_011531368.1:p.Glu791=