Canonical Allele Identifier: CA346373537

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39056767C>T , CM000664.2:g.39056767C>T	GRCh38
NC_000002.11:g.39283908C>T , CM000664.1:g.39283908C>T	GRCh37
NC_000002.10:g.39137412C>T	NCBI36
NG_007530.1:g.68697G>A , LRG_754:g.68697G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.445G>A MANE Select	NP_005624.2:p.Val149Ile
ENST00000402219.8:c.445G>A MANE Select	ENSP00000384675.2:p.Val149Ile
NM_001382394.1:c.424G>A	NP_001369323.1:p.Val142Ile
NM_001382395.1:c.445G>A	NP_001369324.1:p.Val149Ile
NM_005633.3:c.445G>A , LRG_754t1:c.445G>A	NP_005624.2:p.Val149Ile
ENST00000395038.6:c.445G>A	ENSP00000378479.2:p.Val149Ile
ENST00000402219.6:c.445G>A	ENSP00000384675.2:p.Val149Ile
ENST00000426016.5:c.445G>A	ENSP00000387784.1:p.Val149Ile
ENST00000451331.1:c.274G>A	ENSP00000393899.1:p.Val92Ile
ENST00000461545.2:n.472G>A
ENST00000685782.1:n.1283G>A
ENST00000688189.1:n.210G>A
ENST00000689668.1:n.452G>A
ENST00000690679.1:c.545G>A
ENST00000690876.1:c.445G>A	ENSP00000508955.1:p.Val149Ile
ENST00000691229.1:c.445G>A	ENSP00000510437.1:p.Val149Ile
ENST00000692089.1:c.445G>A	ENSP00000508626.1:p.Val149Ile
XM_005264515.3:c.445G>A	XP_005264572.1:p.Val149Ile
XM_005264515.4:c.445G>A	XP_005264572.1:p.Val149Ile
XM_011533060.1:c.538G>A	XP_011531362.1:p.Val180Ile
XM_011533061.1:c.538G>A	XP_011531363.1:p.Val180Ile
XM_011533062.1:c.424G>A	XP_011531364.1:p.Val142Ile
XM_011533062.2:c.424G>A	XP_011531364.1:p.Val142Ile
XM_011533063.1:c.421G>A	XP_011531365.1:p.Val141Ile
XM_011533064.1:c.274G>A	XP_011531366.1:p.Val92Ile
XM_011533064.2:c.274G>A	XP_011531366.1:p.Val92Ile
XM_011533065.1:c.538G>A	XP_011531367.1:p.Val180Ile