Canonical Allele Identifier: CA346366715
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2587628
ClinVar RCV Id: RCV003339223
dbSNP Id: rs1669853322
gnomAD v4: 2-39023223-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39023223T>A , CM000664.2:g.39023223T>A GRCh38
NC_000002.11:g.39250364T>A , CM000664.1:g.39250364T>A GRCh37
NC_000002.10:g.39103868T>A NCBI36
NG_007530.1:g.102241A>T , LRG_754:g.102241A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1085A>T
ENST00000685279.1:c.-29A>T ENSP00000509424.1:n.-29A>T
ENST00000688043.1:n.1426A>T
ENST00000689668.1:n.1212A>T
ENST00000690679.1:c.1392A>T
ENST00000690876.1:c.1094A>T ENSP00000508955.1:p.Glu365Val
ENST00000691229.1:c.1094A>T ENSP00000510437.1:p.Glu365Val
ENST00000692089.1:c.1094A>T ENSP00000508626.1:p.Glu365Val
ENST00000692620.1:c.-29A>T ENSP00000509311.1:n.-29A>T
ENST00000402219.8:c.1205A>T MANE Select ENSP00000384675.2:p.Glu402Val
ENST00000395038.6:c.1205A>T ENSP00000378479.2:p.Glu402Val
ENST00000402219.6:c.1205A>T ENSP00000384675.2:p.Glu402Val
ENST00000426016.5:c.1205A>T ENSP00000387784.1:p.Glu402Val
ENST00000472480.1:n.49A>T
NM_005633.3:c.1205A>T , LRG_754t1:c.1205A>T NP_005624.2:p.Glu402Val
XM_005264515.3:c.1205A>T XP_005264572.1:p.Glu402Val
XM_011533060.1:c.1298A>T XP_011531362.1:p.Glu433Val
XM_011533061.1:c.1298A>T XP_011531363.1:p.Glu433Val
XM_011533062.1:c.1184A>T XP_011531364.1:p.Glu395Val
XM_011533063.1:c.1181A>T XP_011531365.1:p.Glu394Val
XM_011533064.1:c.1034A>T XP_011531366.1:p.Glu345Val
XM_011533065.1:c.1298A>T XP_011531367.1:p.Glu433Val
XM_011533066.1:c.140A>T XP_011531368.1:p.Glu47Val
XM_005264515.4:c.1205A>T XP_005264572.1:p.Glu402Val
XM_011533062.2:c.1184A>T XP_011531364.1:p.Glu395Val
XM_011533064.2:c.1034A>T XP_011531366.1:p.Glu345Val
NM_001382394.1:c.1184A>T NP_001369323.1:p.Glu395Val
NM_001382395.1:c.1205A>T NP_001369324.1:p.Glu402Val
NM_005633.4:c.1205A>T MANE Select NP_005624.2:p.Glu402Val