Canonical Allele Identifier: CA346367746

Gene: SOS1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39051236T>C , CM000664.2:g.39051236T>C	GRCh38
NC_000002.11:g.39278377T>C , CM000664.1:g.39278377T>C	GRCh37
NC_000002.10:g.39131881T>C	NCBI36
NG_007530.1:g.74228A>G , LRG_754:g.74228A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.799A>G
ENST00000472480.2:n.652A>G
ENST00000685782.1:n.1610A>G
ENST00000689668.1:n.779A>G
ENST00000690679.1:c.872A>G
ENST00000690876.1:c.772A>G	ENSP00000508955.1:p.Lys258Glu
ENST00000691229.1:c.772A>G	ENSP00000510437.1:p.Lys258Glu
ENST00000692089.1:c.772A>G	ENSP00000508626.1:p.Lys258Glu
ENST00000402219.8:c.772A>G MANE Select	ENSP00000384675.2:p.Lys258Glu
ENST00000395038.6:c.772A>G	ENSP00000378479.2:p.Lys258Glu
ENST00000402219.6:c.772A>G	ENSP00000384675.2:p.Lys258Glu
ENST00000426016.5:c.772A>G	ENSP00000387784.1:p.Lys258Glu
ENST00000461545.1:n.122A>G
NM_005633.3:c.772A>G , LRG_754t1:c.772A>G	NP_005624.2:p.Lys258Glu
XM_005264515.3:c.772A>G	XP_005264572.1:p.Lys258Glu
XM_011533060.1:c.865A>G	XP_011531362.1:p.Lys289Glu
XM_011533061.1:c.865A>G	XP_011531363.1:p.Lys289Glu
XM_011533062.1:c.751A>G	XP_011531364.1:p.Lys251Glu
XM_011533063.1:c.748A>G	XP_011531365.1:p.Lys250Glu
XM_011533064.1:c.601A>G	XP_011531366.1:p.Lys201Glu
XM_011533065.1:c.865A>G	XP_011531367.1:p.Lys289Glu
XM_005264515.4:c.772A>G	XP_005264572.1:p.Lys258Glu
XM_011533062.2:c.751A>G	XP_011531364.1:p.Lys251Glu
XM_011533064.2:c.601A>G	XP_011531366.1:p.Lys201Glu
NM_001382394.1:c.751A>G	NP_001369323.1:p.Lys251Glu
NM_001382395.1:c.772A>G	NP_001369324.1:p.Lys258Glu
NM_005633.4:c.772A>G MANE Select	NP_005624.2:p.Lys258Glu