Canonical Allele Identifier: CA16616762
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 40681
dbSNP Id: rs397517154
gnomAD v2: 2-39249914-C-A
gnomAD v4: 2-39022773-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022773C>A , CM000664.2:g.39022773C>A GRCh38
NC_000002.11:g.39249914C>A , CM000664.1:g.39249914C>A GRCh37
NC_000002.10:g.39103418C>A NCBI36
NG_007530.1:g.102691G>T , LRG_754:g.102691G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1535G>T
ENST00000685279.1:c.422G>T ENSP00000509424.1:p.Arg141Met
ENST00000688043.1:n.1876G>T
ENST00000689668.1:n.1662G>T
ENST00000690876.1:c.1544G>T ENSP00000508955.1:p.Arg515Met
ENST00000691229.1:c.1544G>T ENSP00000510437.1:p.Arg515Met
ENST00000692089.1:c.1544G>T ENSP00000508626.1:p.Arg515Met
ENST00000692620.1:c.422G>T ENSP00000509311.1:p.Arg141Met
ENST00000402219.8:c.1655G>T MANE Select ENSP00000384675.2:p.Arg552Met
ENST00000395038.6:c.1655G>T ENSP00000378479.2:p.Arg552Met
ENST00000402219.6:c.1655G>T ENSP00000384675.2:p.Arg552Met
ENST00000426016.5:c.1655G>T ENSP00000387784.1:p.Arg552Met
NM_005633.3:c.1655G>T , LRG_754t1:c.1655G>T NP_005624.2:p.Arg552Met
XM_005264515.3:c.1655G>T XP_005264572.1:p.Arg552Met
XM_011533060.1:c.1748G>T XP_011531362.1:p.Arg583Met
XM_011533061.1:c.1748G>T XP_011531363.1:p.Arg583Met
XM_011533062.1:c.1634G>T XP_011531364.1:p.Arg545Met
XM_011533063.1:c.1631G>T XP_011531365.1:p.Arg544Met
XM_011533064.1:c.1484G>T XP_011531366.1:p.Arg495Met
XM_011533065.1:c.1748G>T XP_011531367.1:p.Arg583Met
XM_011533066.1:c.590G>T XP_011531368.1:p.Arg197Met
XM_005264515.4:c.1655G>T XP_005264572.1:p.Arg552Met
XM_011533062.2:c.1634G>T XP_011531364.1:p.Arg545Met
XM_011533064.2:c.1484G>T XP_011531366.1:p.Arg495Met
NM_001382394.1:c.1634G>T NP_001369323.1:p.Arg545Met
NM_001382395.1:c.1655G>T NP_001369324.1:p.Arg552Met
NM_005633.4:c.1655G>T MANE Select NP_005624.2:p.Arg552Met