Canonical Allele Identifier: CA346361539

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38997032A>G , CM000664.2:g.38997032A>G	GRCh38
NC_000002.11:g.39224173A>G , CM000664.1:g.39224173A>G	GRCh37
NC_000002.10:g.39077677A>G	NCBI36
NG_007530.1:g.128432T>C , LRG_754:g.128432T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.2971T>C MANE Select	NP_005624.2:p.Phe991Leu
ENST00000402219.8:c.2971T>C MANE Select	ENSP00000384675.2:p.Phe991Leu
NM_001382394.1:c.2950T>C	NP_001369323.1:p.Phe984Leu
NM_001382395.1:c.2971T>C	NP_001369324.1:p.Phe991Leu
NM_005633.3:c.2971T>C , LRG_754t1:c.2971T>C	NP_005624.2:p.Phe991Leu
ENST00000395038.6:c.2971T>C	ENSP00000378479.2:p.Phe991Leu
ENST00000402219.6:c.2971T>C	ENSP00000384675.2:p.Phe991Leu
ENST00000426016.5:c.2971T>C	ENSP00000387784.1:p.Phe991Leu
ENST00000685279.1:c.1738T>C	ENSP00000509424.1:p.Phe580Leu
ENST00000689668.1:n.2978T>C
ENST00000690876.1:c.*277T>C	ENSP00000508955.1:n.*277T>C
ENST00000691229.1:c.2740T>C	ENSP00000510437.1:p.Phe914Leu
ENST00000692089.1:c.2860T>C	ENSP00000508626.1:p.Phe954Leu
ENST00000692227.1:c.667T>C	ENSP00000509138.1:p.Phe223Leu
ENST00000692620.1:c.*558T>C	ENSP00000509311.1:n.*558T>C
XM_005264515.3:c.2971T>C	XP_005264572.1:p.Phe991Leu
XM_005264515.4:c.2971T>C	XP_005264572.1:p.Phe991Leu
XM_011533060.1:c.3064T>C	XP_011531362.1:p.Phe1022Leu
XM_011533061.1:c.3064T>C	XP_011531363.1:p.Phe1022Leu
XM_011533062.1:c.2950T>C	XP_011531364.1:p.Phe984Leu
XM_011533062.2:c.2950T>C	XP_011531364.1:p.Phe984Leu
XM_011533063.1:c.2947T>C	XP_011531365.1:p.Phe983Leu
XM_011533064.1:c.2800T>C	XP_011531366.1:p.Phe934Leu
XM_011533064.2:c.2800T>C	XP_011531366.1:p.Phe934Leu
XM_011533065.1:c.3064T>C	XP_011531367.1:p.Phe1022Leu
XM_011533066.1:c.1906T>C	XP_011531368.1:p.Phe636Leu