Canonical Allele Identifier: CA346361609

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38997272C>T , CM000664.2:g.38997272C>T	GRCh38
NC_000002.11:g.39224413C>T , CM000664.1:g.39224413C>T	GRCh37
NC_000002.10:g.39077917C>T	NCBI36
NG_007530.1:g.128192G>A , LRG_754:g.128192G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.2945G>A MANE Select	NP_005624.2:p.Arg982Gln
ENST00000402219.8:c.2945G>A MANE Select	ENSP00000384675.2:p.Arg982Gln
NM_001382394.1:c.2924G>A	NP_001369323.1:p.Arg975Gln
NM_001382395.1:c.2945G>A	NP_001369324.1:p.Arg982Gln
NM_005633.3:c.2945G>A , LRG_754t1:c.2945G>A	NP_005624.2:p.Arg982Gln
ENST00000395038.6:c.2945G>A	ENSP00000378479.2:p.Arg982Gln
ENST00000402219.6:c.2945G>A	ENSP00000384675.2:p.Arg982Gln
ENST00000426016.5:c.2945G>A	ENSP00000387784.1:p.Arg982Gln
ENST00000685279.1:c.1712G>A	ENSP00000509424.1:p.Arg571Gln
ENST00000689668.1:n.2952G>A
ENST00000690876.1:c.*251G>A	ENSP00000508955.1:n.*251G>A
ENST00000691229.1:c.2714G>A	ENSP00000510437.1:p.Arg905Gln
ENST00000692089.1:c.2834G>A	ENSP00000508626.1:p.Arg945Gln
ENST00000692227.1:c.641G>A	ENSP00000509138.1:p.Arg214Gln
ENST00000692620.1:c.*532G>A	ENSP00000509311.1:n.*532G>A
XM_005264515.3:c.2945G>A	XP_005264572.1:p.Arg982Gln
XM_005264515.4:c.2945G>A	XP_005264572.1:p.Arg982Gln
XM_011533060.1:c.3038G>A	XP_011531362.1:p.Arg1013Gln
XM_011533061.1:c.3038G>A	XP_011531363.1:p.Arg1013Gln
XM_011533062.1:c.2924G>A	XP_011531364.1:p.Arg975Gln
XM_011533062.2:c.2924G>A	XP_011531364.1:p.Arg975Gln
XM_011533063.1:c.2921G>A	XP_011531365.1:p.Arg974Gln
XM_011533064.1:c.2774G>A	XP_011531366.1:p.Arg925Gln
XM_011533064.2:c.2774G>A	XP_011531366.1:p.Arg925Gln
XM_011533065.1:c.3038G>A	XP_011531367.1:p.Arg1013Gln
XM_011533066.1:c.1880G>A	XP_011531368.1:p.Arg627Gln