Canonical Allele Identifier: CA10602855
Gene: SOS1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39058695T>C , CM000664.2:g.39058695T>C GRCh38
NC_000002.11:g.39285836T>C , CM000664.1:g.39285836T>C GRCh37
NC_000002.10:g.39139340T>C NCBI36
NG_007530.1:g.66769A>G , LRG_754:g.66769A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461545.2:n.350A>G
ENST00000685782.1:n.1161A>G
ENST00000688189.1:n.88A>G
ENST00000689668.1:n.330A>G
ENST00000690679.1:c.423A>G
ENST00000690876.1:c.323A>G ENSP00000508955.1:p.Glu108Gly
ENST00000691229.1:c.323A>G ENSP00000510437.1:p.Glu108Gly
ENST00000692089.1:c.323A>G ENSP00000508626.1:p.Glu108Gly
ENST00000402219.8:c.323A>G MANE Select ENSP00000384675.2:p.Glu108Gly
ENST00000395038.6:c.323A>G ENSP00000378479.2:p.Glu108Gly
ENST00000402219.6:c.323A>G ENSP00000384675.2:p.Glu108Gly
ENST00000426016.5:c.323A>G ENSP00000387784.1:p.Glu108Gly
ENST00000451331.1:c.152A>G ENSP00000393899.1:p.Glu51Gly
NM_005633.3:c.323A>G , LRG_754t1:c.323A>G NP_005624.2:p.Glu108Gly
XM_005264515.3:c.323A>G XP_005264572.1:p.Glu108Gly
XM_011533060.1:c.416A>G XP_011531362.1:p.Glu139Gly
XM_011533061.1:c.416A>G XP_011531363.1:p.Glu139Gly
XM_011533062.1:c.302A>G XP_011531364.1:p.Glu101Gly
XM_011533063.1:c.299A>G XP_011531365.1:p.Glu100Gly
XM_011533064.1:c.152A>G XP_011531366.1:p.Glu51Gly
XM_011533065.1:c.416A>G XP_011531367.1:p.Glu139Gly
XM_005264515.4:c.323A>G XP_005264572.1:p.Glu108Gly
XM_011533062.2:c.302A>G XP_011531364.1:p.Glu101Gly
XM_011533064.2:c.152A>G XP_011531366.1:p.Glu51Gly
NM_001382394.1:c.302A>G NP_001369323.1:p.Glu101Gly
NM_001382395.1:c.323A>G NP_001369324.1:p.Glu108Gly
NM_005633.4:c.323A>G MANE Select NP_005624.2:p.Glu108Gly