Canonical Allele Identifier: CA346363209

Gene: SOS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39006495T>G , CM000664.2:g.39006495T>G	GRCh38
NC_000002.11:g.39233636T>G , CM000664.1:g.39233636T>G	GRCh37
NC_000002.10:g.39087140T>G	NCBI36
NG_007530.1:g.118969A>C , LRG_754:g.118969A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.1475A>C	ENSP00000509424.1:p.Glu492Ala
ENST00000689668.1:n.2715A>C
ENST00000690876.1:c.2597A>C	ENSP00000508955.1:p.Glu866Ala
ENST00000691229.1:c.2477A>C	ENSP00000510437.1:p.Glu826Ala
ENST00000692089.1:c.2597A>C	ENSP00000508626.1:p.Glu866Ala
ENST00000692227.1:c.404A>C	ENSP00000509138.1:p.Glu135Ala
ENST00000692620.1:c.*295A>C	ENSP00000509311.1:n.*295A>C
ENST00000402219.8:c.2708A>C MANE Select	ENSP00000384675.2:p.Glu903Ala
ENST00000395038.6:c.2708A>C	ENSP00000378479.2:p.Glu903Ala
ENST00000402219.6:c.2708A>C	ENSP00000384675.2:p.Glu903Ala
ENST00000426016.5:c.2708A>C	ENSP00000387784.1:p.Glu903Ala
ENST00000474390.1:n.504A>C
NM_005633.3:c.2708A>C , LRG_754t1:c.2708A>C	NP_005624.2:p.Glu903Ala
XM_005264515.3:c.2708A>C	XP_005264572.1:p.Glu903Ala
XM_011533060.1:c.2801A>C	XP_011531362.1:p.Glu934Ala
XM_011533061.1:c.2801A>C	XP_011531363.1:p.Glu934Ala
XM_011533062.1:c.2687A>C	XP_011531364.1:p.Glu896Ala
XM_011533063.1:c.2684A>C	XP_011531365.1:p.Glu895Ala
XM_011533064.1:c.2537A>C	XP_011531366.1:p.Glu846Ala
XM_011533065.1:c.2801A>C	XP_011531367.1:p.Glu934Ala
XM_011533066.1:c.1643A>C	XP_011531368.1:p.Glu548Ala
XM_005264515.4:c.2708A>C	XP_005264572.1:p.Glu903Ala
XM_011533062.2:c.2687A>C	XP_011531364.1:p.Glu896Ala
XM_011533064.2:c.2537A>C	XP_011531366.1:p.Glu846Ala
NM_001382394.1:c.2687A>C	NP_001369323.1:p.Glu896Ala
NM_001382395.1:c.2708A>C	NP_001369324.1:p.Glu903Ala
NM_005633.4:c.2708A>C MANE Select	NP_005624.2:p.Glu903Ala