Canonical Allele Identifier: CA346367550

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39051149C>G , CM000664.2:g.39051149C>G	GRCh38
NC_000002.11:g.39278290C>G , CM000664.1:g.39278290C>G	GRCh37
NC_000002.10:g.39131794C>G	NCBI36
NG_007530.1:g.74315G>C , LRG_754:g.74315G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.886G>C
ENST00000472480.2:n.739G>C
ENST00000685782.1:n.1697G>C
ENST00000689668.1:n.866G>C
ENST00000690679.1:c.959G>C
ENST00000690876.1:c.859G>C	ENSP00000508955.1:p.Ala287Pro
ENST00000691229.1:c.859G>C	ENSP00000510437.1:p.Ala287Pro
ENST00000692089.1:c.859G>C	ENSP00000508626.1:p.Ala287Pro
ENST00000402219.8:c.859G>C MANE Select	ENSP00000384675.2:p.Ala287Pro
ENST00000395038.6:c.859G>C	ENSP00000378479.2:p.Ala287Pro
ENST00000402219.6:c.859G>C	ENSP00000384675.2:p.Ala287Pro
ENST00000426016.5:c.859G>C	ENSP00000387784.1:p.Ala287Pro
ENST00000461545.1:n.209G>C
NM_005633.3:c.859G>C , LRG_754t1:c.859G>C	NP_005624.2:p.Ala287Pro
XM_005264515.3:c.859G>C	XP_005264572.1:p.Ala287Pro
XM_011533060.1:c.952G>C	XP_011531362.1:p.Ala318Pro
XM_011533061.1:c.952G>C	XP_011531363.1:p.Ala318Pro
XM_011533062.1:c.838G>C	XP_011531364.1:p.Ala280Pro
XM_011533063.1:c.835G>C	XP_011531365.1:p.Ala279Pro
XM_011533064.1:c.688G>C	XP_011531366.1:p.Ala230Pro
XM_011533065.1:c.952G>C	XP_011531367.1:p.Ala318Pro
XM_005264515.4:c.859G>C	XP_005264572.1:p.Ala287Pro
XM_011533062.2:c.838G>C	XP_011531364.1:p.Ala280Pro
XM_011533064.2:c.688G>C	XP_011531366.1:p.Ala230Pro
NM_001382394.1:c.838G>C	NP_001369323.1:p.Ala280Pro
NM_001382395.1:c.859G>C	NP_001369324.1:p.Ala287Pro
NM_005633.4:c.859G>C MANE Select	NP_005624.2:p.Ala287Pro