Canonical Allele Identifier: CA346364655

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39013529G>C , CM000664.2:g.39013529G>C	GRCh38
NC_000002.11:g.39240670G>C , CM000664.1:g.39240670G>C	GRCh37
NC_000002.10:g.39094174G>C	NCBI36
NG_007530.1:g.111935C>G , LRG_754:g.111935C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.2098C>G MANE Select	NP_005624.2:p.His700Asp
ENST00000402219.8:c.2098C>G MANE Select	ENSP00000384675.2:p.His700Asp
NM_001382394.1:c.2077C>G	NP_001369323.1:p.His693Asp
NM_001382395.1:c.2098C>G	NP_001369324.1:p.His700Asp
NM_005633.3:c.2098C>G , LRG_754t1:c.2098C>G	NP_005624.2:p.His700Asp
ENST00000395038.6:c.2098C>G	ENSP00000378479.2:p.His700Asp
ENST00000402219.6:c.2098C>G	ENSP00000384675.2:p.His700Asp
ENST00000426016.5:c.2098C>G	ENSP00000387784.1:p.His700Asp
ENST00000685279.1:c.865C>G	ENSP00000509424.1:p.His289Asp
ENST00000688043.1:n.2319C>G
ENST00000689668.1:n.2105C>G
ENST00000690514.1:n.187C>G
ENST00000690876.1:c.1987C>G	ENSP00000508955.1:p.His663Asp
ENST00000691229.1:c.1987C>G	ENSP00000510437.1:p.His663Asp
ENST00000692089.1:c.1987C>G	ENSP00000508626.1:p.His663Asp
ENST00000692620.1:c.865C>G	ENSP00000509311.1:p.His289Asp
XM_005264515.3:c.2098C>G	XP_005264572.1:p.His700Asp
XM_005264515.4:c.2098C>G	XP_005264572.1:p.His700Asp
XM_011533060.1:c.2191C>G	XP_011531362.1:p.His731Asp
XM_011533061.1:c.2191C>G	XP_011531363.1:p.His731Asp
XM_011533062.1:c.2077C>G	XP_011531364.1:p.His693Asp
XM_011533062.2:c.2077C>G	XP_011531364.1:p.His693Asp
XM_011533063.1:c.2074C>G	XP_011531365.1:p.His692Asp
XM_011533064.1:c.1927C>G	XP_011531366.1:p.His643Asp
XM_011533064.2:c.1927C>G	XP_011531366.1:p.His643Asp
XM_011533065.1:c.2191C>G	XP_011531367.1:p.His731Asp
XM_011533066.1:c.1033C>G	XP_011531368.1:p.His345Asp