Canonical Allele Identifier: CA1624388

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39007191C>T , CM000664.2:g.39007191C>T	GRCh38
NC_000002.11:g.39234332C>T , CM000664.1:g.39234332C>T	GRCh37
NC_000002.10:g.39087836C>T	NCBI36
NG_007530.1:g.118273G>A , LRG_754:g.118273G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.2513G>A MANE Select	NP_005624.2:p.Cys838Tyr
ENST00000402219.8:c.2513G>A MANE Select	ENSP00000384675.2:p.Cys838Tyr
NM_001382394.1:c.2492G>A	NP_001369323.1:p.Cys831Tyr
NM_001382395.1:c.2513G>A	NP_001369324.1:p.Cys838Tyr
NM_005633.3:c.2513G>A , LRG_754t1:c.2513G>A	NP_005624.2:p.Cys838Tyr
ENST00000395038.6:c.2513G>A	ENSP00000378479.2:p.Cys838Tyr
ENST00000402219.6:c.2513G>A	ENSP00000384675.2:p.Cys838Tyr
ENST00000426016.5:c.2513G>A	ENSP00000387784.1:p.Cys838Tyr
ENST00000474390.1:n.309G>A
ENST00000685279.1:c.1280G>A	ENSP00000509424.1:p.Cys427Tyr
ENST00000689668.1:n.2520G>A
ENST00000690876.1:c.2402G>A	ENSP00000508955.1:p.Cys801Tyr
ENST00000691229.1:c.2282G>A	ENSP00000510437.1:p.Cys761Tyr
ENST00000692089.1:c.2402G>A	ENSP00000508626.1:p.Cys801Tyr
ENST00000692227.1:c.209G>A	ENSP00000509138.1:p.Cys70Tyr
ENST00000692620.1:c.*100G>A	ENSP00000509311.1:n.*100G>A
XM_005264515.3:c.2513G>A	XP_005264572.1:p.Cys838Tyr
XM_005264515.4:c.2513G>A	XP_005264572.1:p.Cys838Tyr
XM_011533060.1:c.2606G>A	XP_011531362.1:p.Cys869Tyr
XM_011533061.1:c.2606G>A	XP_011531363.1:p.Cys869Tyr
XM_011533062.1:c.2492G>A	XP_011531364.1:p.Cys831Tyr
XM_011533062.2:c.2492G>A	XP_011531364.1:p.Cys831Tyr
XM_011533063.1:c.2489G>A	XP_011531365.1:p.Cys830Tyr
XM_011533064.1:c.2342G>A	XP_011531366.1:p.Cys781Tyr
XM_011533064.2:c.2342G>A	XP_011531366.1:p.Cys781Tyr
XM_011533065.1:c.2606G>A	XP_011531367.1:p.Cys869Tyr
XM_011533066.1:c.1448G>A	XP_011531368.1:p.Cys483Tyr