Canonical Allele Identifier: CA346364609

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39013510C>T , CM000664.2:g.39013510C>T	GRCh38
NC_000002.11:g.39240651C>T , CM000664.1:g.39240651C>T	GRCh37
NC_000002.10:g.39094155C>T	NCBI36
NG_007530.1:g.111954G>A , LRG_754:g.111954G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.2117G>A MANE Select	NP_005624.2:p.Arg706Lys
ENST00000402219.8:c.2117G>A MANE Select	ENSP00000384675.2:p.Arg706Lys
NM_001382394.1:c.2096G>A	NP_001369323.1:p.Arg699Lys
NM_001382395.1:c.2117G>A	NP_001369324.1:p.Arg706Lys
NM_005633.3:c.2117G>A , LRG_754t1:c.2117G>A	NP_005624.2:p.Arg706Lys
ENST00000395038.6:c.2117G>A	ENSP00000378479.2:p.Arg706Lys
ENST00000402219.6:c.2117G>A	ENSP00000384675.2:p.Arg706Lys
ENST00000426016.5:c.2117G>A	ENSP00000387784.1:p.Arg706Lys
ENST00000685279.1:c.884G>A	ENSP00000509424.1:p.Arg295Lys
ENST00000688043.1:n.2338G>A
ENST00000689668.1:n.2124G>A
ENST00000690514.1:n.206G>A
ENST00000690876.1:c.2006G>A	ENSP00000508955.1:p.Arg669Lys
ENST00000691229.1:c.2006G>A	ENSP00000510437.1:p.Arg669Lys
ENST00000692089.1:c.2006G>A	ENSP00000508626.1:p.Arg669Lys
ENST00000692620.1:c.884G>A	ENSP00000509311.1:p.Arg295Lys
XM_005264515.3:c.2117G>A	XP_005264572.1:p.Arg706Lys
XM_005264515.4:c.2117G>A	XP_005264572.1:p.Arg706Lys
XM_011533060.1:c.2210G>A	XP_011531362.1:p.Arg737Lys
XM_011533061.1:c.2210G>A	XP_011531363.1:p.Arg737Lys
XM_011533062.1:c.2096G>A	XP_011531364.1:p.Arg699Lys
XM_011533062.2:c.2096G>A	XP_011531364.1:p.Arg699Lys
XM_011533063.1:c.2093G>A	XP_011531365.1:p.Arg698Lys
XM_011533064.1:c.1946G>A	XP_011531366.1:p.Arg649Lys
XM_011533064.2:c.1946G>A	XP_011531366.1:p.Arg649Lys
XM_011533065.1:c.2210G>A	XP_011531367.1:p.Arg737Lys
XM_011533066.1:c.1052G>A	XP_011531368.1:p.Arg351Lys