Canonical Allele Identifier: CA136161

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38985874A>T , CM000664.2:g.38985874A>T	GRCh38
NC_000002.11:g.39213015A>T , CM000664.1:g.39213015A>T	GRCh37
NC_000002.10:g.39066519A>T	NCBI36
NG_007530.1:g.139590T>A , LRG_754:g.139590T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2719T>A	ENSP00000509424.1:p.Ser907Thr
ENST00000686849.1:n.743T>A
ENST00000690876.1:c.*1258T>A	ENSP00000508955.1:n.*1258T>A
ENST00000692089.1:c.3399+1599T>A	ENSP00000508626.1:n.3399+1599T>A
ENST00000692227.1:c.1162-511T>A	ENSP00000509138.1:n.1162-511T>A
ENST00000402219.8:c.3952T>A MANE Select	ENSP00000384675.2:p.Ser1318Thr
ENST00000395038.6:c.3907T>A	ENSP00000378479.2:p.Ser1303Thr
ENST00000402219.6:c.3952T>A	ENSP00000384675.2:p.Ser1318Thr
ENST00000426016.5:c.3952T>A	ENSP00000387784.1:p.Ser1318Thr
NM_005633.3:c.3952T>A , LRG_754t1:c.3952T>A	NP_005624.2:p.Ser1318Thr
XM_005264515.3:c.3907T>A	XP_005264572.1:p.Ser1303Thr
XM_011533060.1:c.4045T>A	XP_011531362.1:p.Ser1349Thr
XM_011533061.1:c.4000T>A	XP_011531363.1:p.Ser1334Thr
XM_011533062.1:c.3931T>A	XP_011531364.1:p.Ser1311Thr
XM_011533063.1:c.3928T>A	XP_011531365.1:p.Ser1310Thr
XM_011533064.1:c.3781T>A	XP_011531366.1:p.Ser1261Thr
XM_011533065.1:c.3604-511T>A	XP_011531367.1:n.3604-511T>A
XM_011533066.1:c.2887T>A	XP_011531368.1:p.Ser963Thr
XM_005264515.4:c.3907T>A	XP_005264572.1:p.Ser1303Thr
XM_011533062.2:c.3931T>A	XP_011531364.1:p.Ser1311Thr
XM_011533064.2:c.3781T>A	XP_011531366.1:p.Ser1261Thr
NM_001382394.1:c.3931T>A	NP_001369323.1:p.Ser1311Thr
NM_001382395.1:c.3907T>A	NP_001369324.1:p.Ser1303Thr
NM_005633.4:c.3952T>A MANE Select	NP_005624.2:p.Ser1318Thr