Canonical Allele Identifier: CA1624127

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38986129G>T , CM000664.2:g.38986129G>T	GRCh38
NC_000002.11:g.39213270G>T , CM000664.1:g.39213270G>T	GRCh37
NC_000002.10:g.39066774G>T	NCBI36
NG_007530.1:g.139335C>A , LRG_754:g.139335C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3697C>A MANE Select	NP_005624.2:p.Leu1233Ile
ENST00000402219.8:c.3697C>A MANE Select	ENSP00000384675.2:p.Leu1233Ile
NM_001382394.1:c.3676C>A	NP_001369323.1:p.Leu1226Ile
NM_001382395.1:c.3652C>A	NP_001369324.1:p.Leu1218Ile
NM_005633.3:c.3697C>A , LRG_754t1:c.3697C>A	NP_005624.2:p.Leu1233Ile
ENST00000395038.6:c.3652C>A	ENSP00000378479.2:p.Leu1218Ile
ENST00000402219.6:c.3697C>A	ENSP00000384675.2:p.Leu1233Ile
ENST00000426016.5:c.3697C>A	ENSP00000387784.1:p.Leu1233Ile
ENST00000469581.1:n.440C>A
ENST00000685279.1:c.2464C>A	ENSP00000509424.1:p.Leu822Ile
ENST00000686849.1:n.488C>A
ENST00000690876.1:c.*1003C>A	ENSP00000508955.1:n.*1003C>A
ENST00000692089.1:c.3399+1344C>A	ENSP00000508626.1:n.3399+1344C>A
ENST00000692227.1:c.1162-766C>A	ENSP00000509138.1:n.1162-766C>A
XM_005264515.3:c.3652C>A	XP_005264572.1:p.Leu1218Ile
XM_005264515.4:c.3652C>A	XP_005264572.1:p.Leu1218Ile
XM_011533060.1:c.3790C>A	XP_011531362.1:p.Leu1264Ile
XM_011533061.1:c.3745C>A	XP_011531363.1:p.Leu1249Ile
XM_011533062.1:c.3676C>A	XP_011531364.1:p.Leu1226Ile
XM_011533062.2:c.3676C>A	XP_011531364.1:p.Leu1226Ile
XM_011533063.1:c.3673C>A	XP_011531365.1:p.Leu1225Ile
XM_011533064.1:c.3526C>A	XP_011531366.1:p.Leu1176Ile
XM_011533064.2:c.3526C>A	XP_011531366.1:p.Leu1176Ile
XM_011533065.1:c.3604-766C>A	XP_011531367.1:n.3604-766C>A
XM_011533066.1:c.2632C>A	XP_011531368.1:p.Leu878Ile