Canonical Allele Identifier: CA10602366
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 40656
dbSNP Id: rs886041241
gnomAD v2: 2-39281904-C-T
gnomAD v3: 2-39054763-C-T
gnomAD v4: 2-39054763-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39054763C>T , CM000664.2:g.39054763C>T GRCh38
NC_000002.11:g.39281904C>T , CM000664.1:g.39281904C>T GRCh37
NC_000002.10:g.39135408C>T NCBI36
NG_007530.1:g.70701G>A , LRG_754:g.70701G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461545.2:n.598G>A
ENST00000685782.1:n.1409G>A
ENST00000688189.1:n.336G>A
ENST00000689668.1:n.578G>A
ENST00000690679.1:c.671G>A
ENST00000690876.1:c.571G>A ENSP00000508955.1:p.Glu191Lys
ENST00000691229.1:c.571G>A ENSP00000510437.1:p.Glu191Lys
ENST00000692089.1:c.571G>A ENSP00000508626.1:p.Glu191Lys
ENST00000402219.8:c.571G>A MANE Select ENSP00000384675.2:p.Glu191Lys
ENST00000395038.6:c.571G>A ENSP00000378479.2:p.Glu191Lys
ENST00000402219.6:c.571G>A ENSP00000384675.2:p.Glu191Lys
ENST00000426016.5:c.571G>A ENSP00000387784.1:p.Glu191Lys
NM_005633.3:c.571G>A , LRG_754t1:c.571G>A NP_005624.2:p.Glu191Lys
XM_005264515.3:c.571G>A XP_005264572.1:p.Glu191Lys
XM_011533060.1:c.664G>A XP_011531362.1:p.Glu222Lys
XM_011533061.1:c.664G>A XP_011531363.1:p.Glu222Lys
XM_011533062.1:c.550G>A XP_011531364.1:p.Glu184Lys
XM_011533063.1:c.547G>A XP_011531365.1:p.Glu183Lys
XM_011533064.1:c.400G>A XP_011531366.1:p.Glu134Lys
XM_011533065.1:c.664G>A XP_011531367.1:p.Glu222Lys
XM_005264515.4:c.571G>A XP_005264572.1:p.Glu191Lys
XM_011533062.2:c.550G>A XP_011531364.1:p.Glu184Lys
XM_011533064.2:c.400G>A XP_011531366.1:p.Glu134Lys
NM_001382394.1:c.550G>A NP_001369323.1:p.Glu184Lys
NM_001382395.1:c.571G>A NP_001369324.1:p.Glu191Lys
NM_005633.4:c.571G>A MANE Select NP_005624.2:p.Glu191Lys