Canonical Allele Identifier: CA346359766

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38987570A>T , CM000664.2:g.38987570A>T	GRCh38
NC_000002.11:g.39214711A>T , CM000664.1:g.39214711A>T	GRCh37
NC_000002.10:g.39068215A>T	NCBI36
NG_007530.1:g.137894T>A , LRG_754:g.137894T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3413T>A MANE Select	NP_005624.2:p.Ile1138Lys
ENST00000402219.8:c.3413T>A MANE Select	ENSP00000384675.2:p.Ile1138Lys
NM_001382394.1:c.3392T>A	NP_001369323.1:p.Ile1131Lys
NM_001382395.1:c.3368T>A	NP_001369324.1:p.Ile1123Lys
NM_005633.3:c.3413T>A , LRG_754t1:c.3413T>A	NP_005624.2:p.Ile1138Lys
ENST00000395038.6:c.3368T>A	ENSP00000378479.2:p.Ile1123Lys
ENST00000402219.6:c.3413T>A	ENSP00000384675.2:p.Ile1138Lys
ENST00000426016.5:c.3413T>A	ENSP00000387784.1:p.Ile1138Lys
ENST00000469581.1:n.156T>A
ENST00000685279.1:c.2180T>A	ENSP00000509424.1:p.Ile727Lys
ENST00000686849.1:n.204T>A
ENST00000690876.1:c.*719T>A	ENSP00000508955.1:n.*719T>A
ENST00000692089.1:c.3302T>A	ENSP00000508626.1:p.Ile1101Lys
ENST00000692227.1:c.1064T>A	ENSP00000509138.1:p.Ile355Lys
XM_005264515.3:c.3368T>A	XP_005264572.1:p.Ile1123Lys
XM_005264515.4:c.3368T>A	XP_005264572.1:p.Ile1123Lys
XM_011533060.1:c.3506T>A	XP_011531362.1:p.Ile1169Lys
XM_011533061.1:c.3461T>A	XP_011531363.1:p.Ile1154Lys
XM_011533062.1:c.3392T>A	XP_011531364.1:p.Ile1131Lys
XM_011533062.2:c.3392T>A	XP_011531364.1:p.Ile1131Lys
XM_011533063.1:c.3389T>A	XP_011531365.1:p.Ile1130Lys
XM_011533064.1:c.3242T>A	XP_011531366.1:p.Ile1081Lys
XM_011533064.2:c.3242T>A	XP_011531366.1:p.Ile1081Lys
XM_011533065.1:c.3506T>A	XP_011531367.1:p.Ile1169Lys
XM_011533066.1:c.2348T>A	XP_011531368.1:p.Ile783Lys