Canonical Allele Identifier: CA346366805

Gene: SOS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39024042T>C , CM000664.2:g.39024042T>C	GRCh38
NC_000002.11:g.39251183T>C , CM000664.1:g.39251183T>C	GRCh37
NC_000002.10:g.39104687T>C	NCBI36
NG_007530.1:g.101422A>G , LRG_754:g.101422A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1050A>G
ENST00000688043.1:n.1391A>G
ENST00000689668.1:n.1177A>G
ENST00000690679.1:c.1357A>G
ENST00000690876.1:c.1059A>G	ENSP00000508955.1:p.Ile353Met
ENST00000691229.1:c.1059A>G	ENSP00000510437.1:p.Ile353Met
ENST00000692089.1:c.1059A>G	ENSP00000508626.1:p.Ile353Met
ENST00000402219.8:c.1170A>G MANE Select	ENSP00000384675.2:p.Ile390Met
ENST00000395038.6:c.1170A>G	ENSP00000378479.2:p.Ile390Met
ENST00000402219.6:c.1170A>G	ENSP00000384675.2:p.Ile390Met
ENST00000426016.5:c.1170A>G	ENSP00000387784.1:p.Ile390Met
NM_005633.3:c.1170A>G , LRG_754t1:c.1170A>G	NP_005624.2:p.Ile390Met
XM_005264515.3:c.1170A>G	XP_005264572.1:p.Ile390Met
XM_011533060.1:c.1263A>G	XP_011531362.1:p.Ile421Met
XM_011533061.1:c.1263A>G	XP_011531363.1:p.Ile421Met
XM_011533062.1:c.1149A>G	XP_011531364.1:p.Ile383Met
XM_011533063.1:c.1146A>G	XP_011531365.1:p.Ile382Met
XM_011533064.1:c.999A>G	XP_011531366.1:p.Ile333Met
XM_011533065.1:c.1263A>G	XP_011531367.1:p.Ile421Met
XM_011533066.1:c.105A>G	XP_011531368.1:p.Ile35Met
XM_005264515.4:c.1170A>G	XP_005264572.1:p.Ile390Met
XM_011533062.2:c.1149A>G	XP_011531364.1:p.Ile383Met
XM_011533064.2:c.999A>G	XP_011531366.1:p.Ile333Met
NM_001382394.1:c.1149A>G	NP_001369323.1:p.Ile383Met
NM_001382395.1:c.1170A>G	NP_001369324.1:p.Ile390Met
NM_005633.4:c.1170A>G MANE Select	NP_005624.2:p.Ile390Met