Canonical Allele Identifier: CA346364651

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39013528T>A , CM000664.2:g.39013528T>A	GRCh38
NC_000002.11:g.39240669T>A , CM000664.1:g.39240669T>A	GRCh37
NC_000002.10:g.39094173T>A	NCBI36
NG_007530.1:g.111936A>T , LRG_754:g.111936A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.2099A>T MANE Select	NP_005624.2:p.His700Leu
ENST00000402219.8:c.2099A>T MANE Select	ENSP00000384675.2:p.His700Leu
NM_001382394.1:c.2078A>T	NP_001369323.1:p.His693Leu
NM_001382395.1:c.2099A>T	NP_001369324.1:p.His700Leu
NM_005633.3:c.2099A>T , LRG_754t1:c.2099A>T	NP_005624.2:p.His700Leu
ENST00000395038.6:c.2099A>T	ENSP00000378479.2:p.His700Leu
ENST00000402219.6:c.2099A>T	ENSP00000384675.2:p.His700Leu
ENST00000426016.5:c.2099A>T	ENSP00000387784.1:p.His700Leu
ENST00000685279.1:c.866A>T	ENSP00000509424.1:p.His289Leu
ENST00000688043.1:n.2320A>T
ENST00000689668.1:n.2106A>T
ENST00000690514.1:n.188A>T
ENST00000690876.1:c.1988A>T	ENSP00000508955.1:p.His663Leu
ENST00000691229.1:c.1988A>T	ENSP00000510437.1:p.His663Leu
ENST00000692089.1:c.1988A>T	ENSP00000508626.1:p.His663Leu
ENST00000692620.1:c.866A>T	ENSP00000509311.1:p.His289Leu
XM_005264515.3:c.2099A>T	XP_005264572.1:p.His700Leu
XM_005264515.4:c.2099A>T	XP_005264572.1:p.His700Leu
XM_011533060.1:c.2192A>T	XP_011531362.1:p.His731Leu
XM_011533061.1:c.2192A>T	XP_011531363.1:p.His731Leu
XM_011533062.1:c.2078A>T	XP_011531364.1:p.His693Leu
XM_011533062.2:c.2078A>T	XP_011531364.1:p.His693Leu
XM_011533063.1:c.2075A>T	XP_011531365.1:p.His692Leu
XM_011533064.1:c.1928A>T	XP_011531366.1:p.His643Leu
XM_011533064.2:c.1928A>T	XP_011531366.1:p.His643Leu
XM_011533065.1:c.2192A>T	XP_011531367.1:p.His731Leu
XM_011533066.1:c.1034A>T	XP_011531368.1:p.His345Leu