Canonical Allele Identifier: CA425866479

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38986055T>C , CM000664.2:g.38986055T>C	GRCh38
NC_000002.11:g.39213196T>C , CM000664.1:g.39213196T>C	GRCh37
NC_000002.10:g.39066700T>C	NCBI36
NG_007530.1:g.139409A>G , LRG_754:g.139409A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3771A>G MANE Select	NP_005624.2:p.Thr1257=
ENST00000402219.8:c.3771A>G MANE Select	ENSP00000384675.2:p.Thr1257=
NM_001382394.1:c.3750A>G	NP_001369323.1:p.Thr1250=
NM_001382395.1:c.3726A>G	NP_001369324.1:p.Thr1242=
NM_005633.3:c.3771A>G , LRG_754t1:c.3771A>G	NP_005624.2:p.Thr1257=
ENST00000395038.6:c.3726A>G	ENSP00000378479.2:p.Thr1242=
ENST00000402219.6:c.3771A>G	ENSP00000384675.2:p.Thr1257=
ENST00000426016.5:c.3771A>G	ENSP00000387784.1:p.Thr1257=
ENST00000469581.1:n.514A>G
ENST00000685279.1:c.2538A>G	ENSP00000509424.1:p.Thr846=
ENST00000686849.1:n.562A>G
ENST00000690876.1:c.*1077A>G	ENSP00000508955.1:n.*1077A>G
ENST00000692089.1:c.3399+1418A>G	ENSP00000508626.1:n.3399+1418A>G
ENST00000692227.1:c.1162-692A>G	ENSP00000509138.1:n.1162-692A>G
XM_005264515.3:c.3726A>G	XP_005264572.1:p.Thr1242=
XM_005264515.4:c.3726A>G	XP_005264572.1:p.Thr1242=
XM_011533060.1:c.3864A>G	XP_011531362.1:p.Thr1288=
XM_011533061.1:c.3819A>G	XP_011531363.1:p.Thr1273=
XM_011533062.1:c.3750A>G	XP_011531364.1:p.Thr1250=
XM_011533062.2:c.3750A>G	XP_011531364.1:p.Thr1250=
XM_011533063.1:c.3747A>G	XP_011531365.1:p.Thr1249=
XM_011533064.1:c.3600A>G	XP_011531366.1:p.Thr1200=
XM_011533064.2:c.3600A>G	XP_011531366.1:p.Thr1200=
XM_011533065.1:c.3604-692A>G	XP_011531367.1:n.3604-692A>G
XM_011533066.1:c.2706A>G	XP_011531368.1:p.Thr902=