Canonical Allele Identifier: CA346367558

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39051152A>T , CM000664.2:g.39051152A>T	GRCh38
NC_000002.11:g.39278293A>T , CM000664.1:g.39278293A>T	GRCh37
NC_000002.10:g.39131797A>T	NCBI36
NG_007530.1:g.74312T>A , LRG_754:g.74312T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.883T>A
ENST00000472480.2:n.736T>A
ENST00000685782.1:n.1694T>A
ENST00000689668.1:n.863T>A
ENST00000690679.1:c.956T>A
ENST00000690876.1:c.856T>A	ENSP00000508955.1:p.Leu286Ile
ENST00000691229.1:c.856T>A	ENSP00000510437.1:p.Leu286Ile
ENST00000692089.1:c.856T>A	ENSP00000508626.1:p.Leu286Ile
ENST00000402219.8:c.856T>A MANE Select	ENSP00000384675.2:p.Leu286Ile
ENST00000395038.6:c.856T>A	ENSP00000378479.2:p.Leu286Ile
ENST00000402219.6:c.856T>A	ENSP00000384675.2:p.Leu286Ile
ENST00000426016.5:c.856T>A	ENSP00000387784.1:p.Leu286Ile
ENST00000461545.1:n.206T>A
NM_005633.3:c.856T>A , LRG_754t1:c.856T>A	NP_005624.2:p.Leu286Ile
XM_005264515.3:c.856T>A	XP_005264572.1:p.Leu286Ile
XM_011533060.1:c.949T>A	XP_011531362.1:p.Leu317Ile
XM_011533061.1:c.949T>A	XP_011531363.1:p.Leu317Ile
XM_011533062.1:c.835T>A	XP_011531364.1:p.Leu279Ile
XM_011533063.1:c.832T>A	XP_011531365.1:p.Leu278Ile
XM_011533064.1:c.685T>A	XP_011531366.1:p.Leu229Ile
XM_011533065.1:c.949T>A	XP_011531367.1:p.Leu317Ile
XM_005264515.4:c.856T>A	XP_005264572.1:p.Leu286Ile
XM_011533062.2:c.835T>A	XP_011531364.1:p.Leu279Ile
XM_011533064.2:c.685T>A	XP_011531366.1:p.Leu229Ile
NM_001382394.1:c.835T>A	NP_001369323.1:p.Leu279Ile
NM_001382395.1:c.856T>A	NP_001369324.1:p.Leu286Ile
NM_005633.4:c.856T>A MANE Select	NP_005624.2:p.Leu286Ile