Canonical Allele Identifier: CA346364396

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39012309A>C , CM000664.2:g.39012309A>C	GRCh38
NC_000002.11:g.39239450A>C , CM000664.1:g.39239450A>C	GRCh37
NC_000002.10:g.39092954A>C	NCBI36
NG_007530.1:g.113155T>G , LRG_754:g.113155T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.2207T>G MANE Select	NP_005624.2:p.Ile736Arg
ENST00000402219.8:c.2207T>G MANE Select	ENSP00000384675.2:p.Ile736Arg
NM_001382394.1:c.2186T>G	NP_001369323.1:p.Ile729Arg
NM_001382395.1:c.2207T>G	NP_001369324.1:p.Ile736Arg
NM_005633.3:c.2207T>G , LRG_754t1:c.2207T>G	NP_005624.2:p.Ile736Arg
ENST00000395038.6:c.2207T>G	ENSP00000378479.2:p.Ile736Arg
ENST00000402219.6:c.2207T>G	ENSP00000384675.2:p.Ile736Arg
ENST00000426016.5:c.2207T>G	ENSP00000387784.1:p.Ile736Arg
ENST00000685279.1:c.974T>G	ENSP00000509424.1:p.Ile325Arg
ENST00000688043.1:n.3539T>G
ENST00000689668.1:n.2214T>G
ENST00000690514.1:n.296T>G
ENST00000690876.1:c.2096T>G	ENSP00000508955.1:p.Ile699Arg
ENST00000691229.1:c.2096T>G	ENSP00000510437.1:p.Ile699Arg
ENST00000692089.1:c.2096T>G	ENSP00000508626.1:p.Ile699Arg
ENST00000692620.1:c.934+1151T>G	ENSP00000509311.1:n.934+1151T>G
XM_005264515.3:c.2207T>G	XP_005264572.1:p.Ile736Arg
XM_005264515.4:c.2207T>G	XP_005264572.1:p.Ile736Arg
XM_011533060.1:c.2300T>G	XP_011531362.1:p.Ile767Arg
XM_011533061.1:c.2300T>G	XP_011531363.1:p.Ile767Arg
XM_011533062.1:c.2186T>G	XP_011531364.1:p.Ile729Arg
XM_011533062.2:c.2186T>G	XP_011531364.1:p.Ile729Arg
XM_011533063.1:c.2183T>G	XP_011531365.1:p.Ile728Arg
XM_011533064.1:c.2036T>G	XP_011531366.1:p.Ile679Arg
XM_011533064.2:c.2036T>G	XP_011531366.1:p.Ile679Arg
XM_011533065.1:c.2300T>G	XP_011531367.1:p.Ile767Arg
XM_011533066.1:c.1142T>G	XP_011531368.1:p.Ile381Arg