Canonical Allele Identifier: CA346360359

Gene: SOS1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38995158A>T , CM000664.2:g.38995158A>T	GRCh38
NC_000002.11:g.39222299A>T , CM000664.1:g.39222299A>T	GRCh37
NC_000002.10:g.39075803A>T	NCBI36
NG_007530.1:g.130306T>A , LRG_754:g.130306T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2078T>A	ENSP00000509424.1:p.Val693Glu
ENST00000690876.1:c.*617T>A	ENSP00000508955.1:n.*617T>A
ENST00000691229.1:c.3080T>A	ENSP00000510437.1:p.Val1027Glu
ENST00000692089.1:c.3200T>A	ENSP00000508626.1:p.Val1067Glu
ENST00000692227.1:c.1007T>A	ENSP00000509138.1:p.Val336Glu
ENST00000692620.1:c.*898T>A	ENSP00000509311.1:n.*898T>A
ENST00000402219.8:c.3311T>A MANE Select	ENSP00000384675.2:p.Val1104Glu
ENST00000395038.6:c.3311T>A	ENSP00000378479.2:p.Val1104Glu
ENST00000402219.6:c.3311T>A	ENSP00000384675.2:p.Val1104Glu
ENST00000426016.5:c.3311T>A	ENSP00000387784.1:p.Val1104Glu
NM_005633.3:c.3311T>A , LRG_754t1:c.3311T>A	NP_005624.2:p.Val1104Glu
XM_005264515.3:c.3311T>A	XP_005264572.1:p.Val1104Glu
XM_011533060.1:c.3404T>A	XP_011531362.1:p.Val1135Glu
XM_011533061.1:c.3404T>A	XP_011531363.1:p.Val1135Glu
XM_011533062.1:c.3290T>A	XP_011531364.1:p.Val1097Glu
XM_011533063.1:c.3287T>A	XP_011531365.1:p.Val1096Glu
XM_011533064.1:c.3140T>A	XP_011531366.1:p.Val1047Glu
XM_011533065.1:c.3404T>A	XP_011531367.1:p.Val1135Glu
XM_011533066.1:c.2246T>A	XP_011531368.1:p.Val749Glu
XM_005264515.4:c.3311T>A	XP_005264572.1:p.Val1104Glu
XM_011533062.2:c.3290T>A	XP_011531364.1:p.Val1097Glu
XM_011533064.2:c.3140T>A	XP_011531366.1:p.Val1047Glu
NM_001382394.1:c.3290T>A	NP_001369323.1:p.Val1097Glu
NM_001382395.1:c.3311T>A	NP_001369324.1:p.Val1104Glu
NM_005633.4:c.3311T>A MANE Select	NP_005624.2:p.Val1104Glu