Canonical Allele Identifier: CA1624110

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38986020G>C , CM000664.2:g.38986020G>C	GRCh38
NC_000002.11:g.39213161G>C , CM000664.1:g.39213161G>C	GRCh37
NC_000002.10:g.39066665G>C	NCBI36
NG_007530.1:g.139444C>G , LRG_754:g.139444C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3806C>G MANE Select	NP_005624.2:p.Thr1269Arg
ENST00000402219.8:c.3806C>G MANE Select	ENSP00000384675.2:p.Thr1269Arg
NM_001382394.1:c.3785C>G	NP_001369323.1:p.Thr1262Arg
NM_001382395.1:c.3761C>G	NP_001369324.1:p.Thr1254Arg
NM_005633.3:c.3806C>G , LRG_754t1:c.3806C>G	NP_005624.2:p.Thr1269Arg
ENST00000395038.6:c.3761C>G	ENSP00000378479.2:p.Thr1254Arg
ENST00000402219.6:c.3806C>G	ENSP00000384675.2:p.Thr1269Arg
ENST00000426016.5:c.3806C>G	ENSP00000387784.1:p.Thr1269Arg
ENST00000685279.1:c.2573C>G	ENSP00000509424.1:p.Thr858Arg
ENST00000686849.1:n.597C>G
ENST00000690876.1:c.*1112C>G	ENSP00000508955.1:n.*1112C>G
ENST00000692089.1:c.3399+1453C>G	ENSP00000508626.1:n.3399+1453C>G
ENST00000692227.1:c.1162-657C>G	ENSP00000509138.1:n.1162-657C>G
XM_005264515.3:c.3761C>G	XP_005264572.1:p.Thr1254Arg
XM_005264515.4:c.3761C>G	XP_005264572.1:p.Thr1254Arg
XM_011533060.1:c.3899C>G	XP_011531362.1:p.Thr1300Arg
XM_011533061.1:c.3854C>G	XP_011531363.1:p.Thr1285Arg
XM_011533062.1:c.3785C>G	XP_011531364.1:p.Thr1262Arg
XM_011533062.2:c.3785C>G	XP_011531364.1:p.Thr1262Arg
XM_011533063.1:c.3782C>G	XP_011531365.1:p.Thr1261Arg
XM_011533064.1:c.3635C>G	XP_011531366.1:p.Thr1212Arg
XM_011533064.2:c.3635C>G	XP_011531366.1:p.Thr1212Arg
XM_011533065.1:c.3604-657C>G	XP_011531367.1:n.3604-657C>G
XM_011533066.1:c.2741C>G	XP_011531368.1:p.Thr914Arg