Canonical Allele Identifier: CA1624669

Gene: SOS1

Linked Data

• ClinVar Variation Id: 444007
• ClinVar RCV Id: RCV000511020 ; RCV001214798 ; RCV002467844 ; RCV002383990
• dbSNP Id: rs758546951
• ExAC: 2:39262448 T / C
• gnomAD v2: 2-39262448-T-C
• gnomAD v3: 2-39035307-T-C
• gnomAD v4: 2-39035307-T-C
• COSMIC: COSM3407858
• MyVariant Identifiers: chr2:g.39262448T>C (hg19) ; chr2:g.39035307T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39035307T>C , CM000664.2:g.39035307T>C	GRCh38
NC_000002.11:g.39262448T>C , CM000664.1:g.39262448T>C	GRCh37
NC_000002.10:g.39115952T>C	NCBI36
NG_007530.1:g.90157A>G , LRG_754:g.90157A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.1006A>G
ENST00000472480.2:n.859A>G
ENST00000685782.1:n.1814-44A>G
ENST00000689668.1:n.986A>G
ENST00000690679.1:c.1079A>G
ENST00000690876.1:c.868A>G	ENSP00000508955.1:p.Ile290Val
ENST00000691229.1:c.868A>G	ENSP00000510437.1:p.Ile290Val
ENST00000692089.1:c.868A>G	ENSP00000508626.1:p.Ile290Val
ENST00000402219.8:c.979A>G MANE Select	ENSP00000384675.2:p.Ile327Val
ENST00000395038.6:c.979A>G	ENSP00000378479.2:p.Ile327Val
ENST00000402219.6:c.979A>G	ENSP00000384675.2:p.Ile327Val
ENST00000426016.5:c.979A>G	ENSP00000387784.1:p.Ile327Val
ENST00000461545.1:n.329A>G
NM_005633.3:c.979A>G , LRG_754t1:c.979A>G	NP_005624.2:p.Ile327Val
XM_005264515.3:c.979A>G	XP_005264572.1:p.Ile327Val
XM_011533060.1:c.1072A>G	XP_011531362.1:p.Ile358Val
XM_011533061.1:c.1072A>G	XP_011531363.1:p.Ile358Val
XM_011533062.1:c.958A>G	XP_011531364.1:p.Ile320Val
XM_011533063.1:c.955A>G	XP_011531365.1:p.Ile319Val
XM_011533064.1:c.808A>G	XP_011531366.1:p.Ile270Val
XM_011533065.1:c.1072A>G	XP_011531367.1:p.Ile358Val
XM_005264515.4:c.979A>G	XP_005264572.1:p.Ile327Val
XM_011533062.2:c.958A>G	XP_011531364.1:p.Ile320Val
XM_011533064.2:c.808A>G	XP_011531366.1:p.Ile270Val
NM_001382394.1:c.958A>G	NP_001369323.1:p.Ile320Val
NM_001382395.1:c.979A>G	NP_001369324.1:p.Ile327Val
NM_005633.4:c.979A>G MANE Select	NP_005624.2:p.Ile327Val