Canonical Allele Identifier: CA346364665

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39013533C>G , CM000664.2:g.39013533C>G	GRCh38
NC_000002.11:g.39240674C>G , CM000664.1:g.39240674C>G	GRCh37
NC_000002.10:g.39094178C>G	NCBI36
NG_007530.1:g.111931G>C , LRG_754:g.111931G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.2094G>C MANE Select	NP_005624.2:p.Glu698Asp
ENST00000402219.8:c.2094G>C MANE Select	ENSP00000384675.2:p.Glu698Asp
NM_001382394.1:c.2073G>C	NP_001369323.1:p.Glu691Asp
NM_001382395.1:c.2094G>C	NP_001369324.1:p.Glu698Asp
NM_005633.3:c.2094G>C , LRG_754t1:c.2094G>C	NP_005624.2:p.Glu698Asp
ENST00000395038.6:c.2094G>C	ENSP00000378479.2:p.Glu698Asp
ENST00000402219.6:c.2094G>C	ENSP00000384675.2:p.Glu698Asp
ENST00000426016.5:c.2094G>C	ENSP00000387784.1:p.Glu698Asp
ENST00000685279.1:c.861G>C	ENSP00000509424.1:p.Glu287Asp
ENST00000688043.1:n.2315G>C
ENST00000689668.1:n.2101G>C
ENST00000690514.1:n.183G>C
ENST00000690876.1:c.1983G>C	ENSP00000508955.1:p.Glu661Asp
ENST00000691229.1:c.1983G>C	ENSP00000510437.1:p.Glu661Asp
ENST00000692089.1:c.1983G>C	ENSP00000508626.1:p.Glu661Asp
ENST00000692620.1:c.861G>C	ENSP00000509311.1:p.Glu287Asp
XM_005264515.3:c.2094G>C	XP_005264572.1:p.Glu698Asp
XM_005264515.4:c.2094G>C	XP_005264572.1:p.Glu698Asp
XM_011533060.1:c.2187G>C	XP_011531362.1:p.Glu729Asp
XM_011533061.1:c.2187G>C	XP_011531363.1:p.Glu729Asp
XM_011533062.1:c.2073G>C	XP_011531364.1:p.Glu691Asp
XM_011533062.2:c.2073G>C	XP_011531364.1:p.Glu691Asp
XM_011533063.1:c.2070G>C	XP_011531365.1:p.Glu690Asp
XM_011533064.1:c.1923G>C	XP_011531366.1:p.Glu641Asp
XM_011533064.2:c.1923G>C	XP_011531366.1:p.Glu641Asp
XM_011533065.1:c.2187G>C	XP_011531367.1:p.Glu729Asp
XM_011533066.1:c.1029G>C	XP_011531368.1:p.Glu343Asp