Canonical Allele Identifier: CA1624573
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280694
dbSNP Id: rs746798986
gnomAD v2: 2-39249943-T-C
gnomAD v3: 2-39022802-T-C
gnomAD v4: 2-39022802-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022802T>C , CM000664.2:g.39022802T>C GRCh38
NC_000002.11:g.39249943T>C , CM000664.1:g.39249943T>C GRCh37
NC_000002.10:g.39103447T>C NCBI36
NG_007530.1:g.102662A>G , LRG_754:g.102662A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1506A>G
ENST00000685279.1:c.393A>G ENSP00000509424.1:p.Ile131Met
ENST00000688043.1:n.1847A>G
ENST00000689668.1:n.1633A>G
ENST00000690876.1:c.1515A>G ENSP00000508955.1:p.Ile505Met
ENST00000691229.1:c.1515A>G ENSP00000510437.1:p.Ile505Met
ENST00000692089.1:c.1515A>G ENSP00000508626.1:p.Ile505Met
ENST00000692620.1:c.393A>G ENSP00000509311.1:p.Ile131Met
ENST00000402219.8:c.1626A>G MANE Select ENSP00000384675.2:p.Ile542Met
ENST00000395038.6:c.1626A>G ENSP00000378479.2:p.Ile542Met
ENST00000402219.6:c.1626A>G ENSP00000384675.2:p.Ile542Met
ENST00000426016.5:c.1626A>G ENSP00000387784.1:p.Ile542Met
NM_005633.3:c.1626A>G , LRG_754t1:c.1626A>G NP_005624.2:p.Ile542Met
XM_005264515.3:c.1626A>G XP_005264572.1:p.Ile542Met
XM_011533060.1:c.1719A>G XP_011531362.1:p.Ile573Met
XM_011533061.1:c.1719A>G XP_011531363.1:p.Ile573Met
XM_011533062.1:c.1605A>G XP_011531364.1:p.Ile535Met
XM_011533063.1:c.1602A>G XP_011531365.1:p.Ile534Met
XM_011533064.1:c.1455A>G XP_011531366.1:p.Ile485Met
XM_011533065.1:c.1719A>G XP_011531367.1:p.Ile573Met
XM_011533066.1:c.561A>G XP_011531368.1:p.Ile187Met
XM_005264515.4:c.1626A>G XP_005264572.1:p.Ile542Met
XM_011533062.2:c.1605A>G XP_011531364.1:p.Ile535Met
XM_011533064.2:c.1455A>G XP_011531366.1:p.Ile485Met
NM_001382394.1:c.1605A>G NP_001369323.1:p.Ile535Met
NM_001382395.1:c.1626A>G NP_001369324.1:p.Ile542Met
NM_005633.4:c.1626A>G MANE Select NP_005624.2:p.Ile542Met