Canonical Allele Identifier: CA1624232

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38995195C>T , CM000664.2:g.38995195C>T	GRCh38
NC_000002.11:g.39222336C>T , CM000664.1:g.39222336C>T	GRCh37
NC_000002.10:g.39075840C>T	NCBI36
NG_007530.1:g.130269G>A , LRG_754:g.130269G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3274G>A MANE Select	NP_005624.2:p.Ala1092Thr
ENST00000402219.8:c.3274G>A MANE Select	ENSP00000384675.2:p.Ala1092Thr
NM_001382394.1:c.3253G>A	NP_001369323.1:p.Ala1085Thr
NM_001382395.1:c.3274G>A	NP_001369324.1:p.Ala1092Thr
NM_005633.3:c.3274G>A , LRG_754t1:c.3274G>A	NP_005624.2:p.Ala1092Thr
ENST00000395038.6:c.3274G>A	ENSP00000378479.2:p.Ala1092Thr
ENST00000402219.6:c.3274G>A	ENSP00000384675.2:p.Ala1092Thr
ENST00000426016.5:c.3274G>A	ENSP00000387784.1:p.Ala1092Thr
ENST00000685279.1:c.2041G>A	ENSP00000509424.1:p.Ala681Thr
ENST00000690876.1:c.*580G>A	ENSP00000508955.1:n.*580G>A
ENST00000691229.1:c.3043G>A	ENSP00000510437.1:p.Ala1015Thr
ENST00000692089.1:c.3163G>A	ENSP00000508626.1:p.Ala1055Thr
ENST00000692227.1:c.970G>A	ENSP00000509138.1:p.Ala324Thr
ENST00000692620.1:c.*861G>A	ENSP00000509311.1:n.*861G>A
XM_005264515.3:c.3274G>A	XP_005264572.1:p.Ala1092Thr
XM_005264515.4:c.3274G>A	XP_005264572.1:p.Ala1092Thr
XM_011533060.1:c.3367G>A	XP_011531362.1:p.Ala1123Thr
XM_011533061.1:c.3367G>A	XP_011531363.1:p.Ala1123Thr
XM_011533062.1:c.3253G>A	XP_011531364.1:p.Ala1085Thr
XM_011533062.2:c.3253G>A	XP_011531364.1:p.Ala1085Thr
XM_011533063.1:c.3250G>A	XP_011531365.1:p.Ala1084Thr
XM_011533064.1:c.3103G>A	XP_011531366.1:p.Ala1035Thr
XM_011533064.2:c.3103G>A	XP_011531366.1:p.Ala1035Thr
XM_011533065.1:c.3367G>A	XP_011531367.1:p.Ala1123Thr
XM_011533066.1:c.2209G>A	XP_011531368.1:p.Ala737Thr