Canonical Allele Identifier: CA178011

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38985855G>C , CM000664.2:g.38985855G>C	GRCh38
NC_000002.11:g.39212996G>C , CM000664.1:g.39212996G>C	GRCh37
NC_000002.10:g.39066500G>C	NCBI36
NG_007530.1:g.139609C>G , LRG_754:g.139609C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3971C>G MANE Select	NP_005624.2:p.Pro1324Arg
ENST00000402219.8:c.3971C>G MANE Select	ENSP00000384675.2:p.Pro1324Arg
NM_001382394.1:c.3950C>G	NP_001369323.1:p.Pro1317Arg
NM_001382395.1:c.3926C>G	NP_001369324.1:p.Pro1309Arg
NM_005633.3:c.3971C>G , LRG_754t1:c.3971C>G	NP_005624.2:p.Pro1324Arg
ENST00000395038.6:c.3926C>G	ENSP00000378479.2:p.Pro1309Arg
ENST00000402219.6:c.3971C>G	ENSP00000384675.2:p.Pro1324Arg
ENST00000426016.5:c.3971C>G	ENSP00000387784.1:p.Pro1324Arg
ENST00000685279.1:c.2738C>G	ENSP00000509424.1:p.Pro913Arg
ENST00000686849.1:n.762C>G
ENST00000690876.1:c.*1277C>G	ENSP00000508955.1:n.*1277C>G
ENST00000692089.1:c.3399+1618C>G	ENSP00000508626.1:n.3399+1618C>G
ENST00000692227.1:c.1162-492C>G	ENSP00000509138.1:n.1162-492C>G
XM_005264515.3:c.3926C>G	XP_005264572.1:p.Pro1309Arg
XM_005264515.4:c.3926C>G	XP_005264572.1:p.Pro1309Arg
XM_011533060.1:c.4064C>G	XP_011531362.1:p.Pro1355Arg
XM_011533061.1:c.4019C>G	XP_011531363.1:p.Pro1340Arg
XM_011533062.1:c.3950C>G	XP_011531364.1:p.Pro1317Arg
XM_011533062.2:c.3950C>G	XP_011531364.1:p.Pro1317Arg
XM_011533063.1:c.3947C>G	XP_011531365.1:p.Pro1316Arg
XM_011533064.1:c.3800C>G	XP_011531366.1:p.Pro1267Arg
XM_011533064.2:c.3800C>G	XP_011531366.1:p.Pro1267Arg
XM_011533065.1:c.3604-492C>G	XP_011531367.1:n.3604-492C>G
XM_011533066.1:c.2906C>G	XP_011531368.1:p.Pro969Arg