Canonical Allele Identifier: CA346367752

Gene: SOS1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39051239C>T , CM000664.2:g.39051239C>T	GRCh38
NC_000002.11:g.39278380C>T , CM000664.1:g.39278380C>T	GRCh37
NC_000002.10:g.39131884C>T	NCBI36
NG_007530.1:g.74225G>A , LRG_754:g.74225G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.796G>A
ENST00000472480.2:n.649G>A
ENST00000685782.1:n.1607G>A
ENST00000689668.1:n.776G>A
ENST00000690679.1:c.869G>A
ENST00000690876.1:c.769G>A	ENSP00000508955.1:p.Val257Ile
ENST00000691229.1:c.769G>A	ENSP00000510437.1:p.Val257Ile
ENST00000692089.1:c.769G>A	ENSP00000508626.1:p.Val257Ile
ENST00000402219.8:c.769G>A MANE Select	ENSP00000384675.2:p.Val257Ile
ENST00000395038.6:c.769G>A	ENSP00000378479.2:p.Val257Ile
ENST00000402219.6:c.769G>A	ENSP00000384675.2:p.Val257Ile
ENST00000426016.5:c.769G>A	ENSP00000387784.1:p.Val257Ile
ENST00000461545.1:n.119G>A
NM_005633.3:c.769G>A , LRG_754t1:c.769G>A	NP_005624.2:p.Val257Ile
XM_005264515.3:c.769G>A	XP_005264572.1:p.Val257Ile
XM_011533060.1:c.862G>A	XP_011531362.1:p.Val288Ile
XM_011533061.1:c.862G>A	XP_011531363.1:p.Val288Ile
XM_011533062.1:c.748G>A	XP_011531364.1:p.Val250Ile
XM_011533063.1:c.745G>A	XP_011531365.1:p.Val249Ile
XM_011533064.1:c.598G>A	XP_011531366.1:p.Val200Ile
XM_011533065.1:c.862G>A	XP_011531367.1:p.Val288Ile
XM_005264515.4:c.769G>A	XP_005264572.1:p.Val257Ile
XM_011533062.2:c.748G>A	XP_011531364.1:p.Val250Ile
XM_011533064.2:c.598G>A	XP_011531366.1:p.Val200Ile
NM_001382394.1:c.748G>A	NP_001369323.1:p.Val250Ile
NM_001382395.1:c.769G>A	NP_001369324.1:p.Val257Ile
NM_005633.4:c.769G>A MANE Select	NP_005624.2:p.Val257Ile