Canonical Allele Identifier: CA346367559

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39051153G>C , CM000664.2:g.39051153G>C	GRCh38
NC_000002.11:g.39278294G>C , CM000664.1:g.39278294G>C	GRCh37
NC_000002.10:g.39131798G>C	NCBI36
NG_007530.1:g.74311C>G , LRG_754:g.74311C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.882C>G
ENST00000472480.2:n.735C>G
ENST00000685782.1:n.1693C>G
ENST00000689668.1:n.862C>G
ENST00000690679.1:c.955C>G
ENST00000690876.1:c.855C>G	ENSP00000508955.1:p.Asp285Glu
ENST00000691229.1:c.855C>G	ENSP00000510437.1:p.Asp285Glu
ENST00000692089.1:c.855C>G	ENSP00000508626.1:p.Asp285Glu
ENST00000402219.8:c.855C>G MANE Select	ENSP00000384675.2:p.Asp285Glu
ENST00000395038.6:c.855C>G	ENSP00000378479.2:p.Asp285Glu
ENST00000402219.6:c.855C>G	ENSP00000384675.2:p.Asp285Glu
ENST00000426016.5:c.855C>G	ENSP00000387784.1:p.Asp285Glu
ENST00000461545.1:n.205C>G
NM_005633.3:c.855C>G , LRG_754t1:c.855C>G	NP_005624.2:p.Asp285Glu
XM_005264515.3:c.855C>G	XP_005264572.1:p.Asp285Glu
XM_011533060.1:c.948C>G	XP_011531362.1:p.Asp316Glu
XM_011533061.1:c.948C>G	XP_011531363.1:p.Asp316Glu
XM_011533062.1:c.834C>G	XP_011531364.1:p.Asp278Glu
XM_011533063.1:c.831C>G	XP_011531365.1:p.Asp277Glu
XM_011533064.1:c.684C>G	XP_011531366.1:p.Asp228Glu
XM_011533065.1:c.948C>G	XP_011531367.1:p.Asp316Glu
XM_005264515.4:c.855C>G	XP_005264572.1:p.Asp285Glu
XM_011533062.2:c.834C>G	XP_011531364.1:p.Asp278Glu
XM_011533064.2:c.684C>G	XP_011531366.1:p.Asp228Glu
NM_001382394.1:c.834C>G	NP_001369323.1:p.Asp278Glu
NM_001382395.1:c.855C>G	NP_001369324.1:p.Asp285Glu
NM_005633.4:c.855C>G MANE Select	NP_005624.2:p.Asp285Glu