Canonical Allele Identifier: CA346364069

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39012165A>G , CM000664.2:g.39012165A>G	GRCh38
NC_000002.11:g.39239306A>G , CM000664.1:g.39239306A>G	GRCh37
NC_000002.10:g.39092810A>G	NCBI36
NG_007530.1:g.113299T>C , LRG_754:g.113299T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.2351T>C MANE Select	NP_005624.2:p.Ile784Thr
ENST00000402219.8:c.2351T>C MANE Select	ENSP00000384675.2:p.Ile784Thr
NM_001382394.1:c.2330T>C	NP_001369323.1:p.Ile777Thr
NM_001382395.1:c.2351T>C	NP_001369324.1:p.Ile784Thr
NM_005633.3:c.2351T>C , LRG_754t1:c.2351T>C	NP_005624.2:p.Ile784Thr
ENST00000395038.6:c.2351T>C	ENSP00000378479.2:p.Ile784Thr
ENST00000402219.6:c.2351T>C	ENSP00000384675.2:p.Ile784Thr
ENST00000426016.5:c.2351T>C	ENSP00000387784.1:p.Ile784Thr
ENST00000685279.1:c.1118T>C	ENSP00000509424.1:p.Ile373Thr
ENST00000688043.1:n.3683T>C
ENST00000689668.1:n.2358T>C
ENST00000690514.1:n.440T>C
ENST00000690876.1:c.2240T>C	ENSP00000508955.1:p.Ile747Thr
ENST00000691229.1:c.2240T>C	ENSP00000510437.1:p.Ile747Thr
ENST00000692089.1:c.2240T>C	ENSP00000508626.1:p.Ile747Thr
ENST00000692227.1:c.47T>C	ENSP00000509138.1:p.Ile16Thr
ENST00000692620.1:c.934+1295T>C	ENSP00000509311.1:n.934+1295T>C
XM_005264515.3:c.2351T>C	XP_005264572.1:p.Ile784Thr
XM_005264515.4:c.2351T>C	XP_005264572.1:p.Ile784Thr
XM_011533060.1:c.2444T>C	XP_011531362.1:p.Ile815Thr
XM_011533061.1:c.2444T>C	XP_011531363.1:p.Ile815Thr
XM_011533062.1:c.2330T>C	XP_011531364.1:p.Ile777Thr
XM_011533062.2:c.2330T>C	XP_011531364.1:p.Ile777Thr
XM_011533063.1:c.2327T>C	XP_011531365.1:p.Ile776Thr
XM_011533064.1:c.2180T>C	XP_011531366.1:p.Ile727Thr
XM_011533064.2:c.2180T>C	XP_011531366.1:p.Ile727Thr
XM_011533065.1:c.2444T>C	XP_011531367.1:p.Ile815Thr
XM_011533066.1:c.1286T>C	XP_011531368.1:p.Ile429Thr