Canonical Allele Identifier: CA346373396

Gene: SOS1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39056707C>G , CM000664.2:g.39056707C>G	GRCh38
NC_000002.11:g.39283848C>G , CM000664.1:g.39283848C>G	GRCh37
NC_000002.10:g.39137352C>G	NCBI36
NG_007530.1:g.68757G>C , LRG_754:g.68757G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.532G>C
ENST00000685782.1:n.1343G>C
ENST00000688189.1:n.270G>C
ENST00000689668.1:n.512G>C
ENST00000690679.1:c.605G>C
ENST00000690876.1:c.505G>C	ENSP00000508955.1:p.Asp169His
ENST00000691229.1:c.505G>C	ENSP00000510437.1:p.Asp169His
ENST00000692089.1:c.505G>C	ENSP00000508626.1:p.Asp169His
ENST00000402219.8:c.505G>C MANE Select	ENSP00000384675.2:p.Asp169His
ENST00000395038.6:c.505G>C	ENSP00000378479.2:p.Asp169His
ENST00000402219.6:c.505G>C	ENSP00000384675.2:p.Asp169His
ENST00000426016.5:c.505G>C	ENSP00000387784.1:p.Asp169His
NM_005633.3:c.505G>C , LRG_754t1:c.505G>C	NP_005624.2:p.Asp169His
XM_005264515.3:c.505G>C	XP_005264572.1:p.Asp169His
XM_011533060.1:c.598G>C	XP_011531362.1:p.Asp200His
XM_011533061.1:c.598G>C	XP_011531363.1:p.Asp200His
XM_011533062.1:c.484G>C	XP_011531364.1:p.Asp162His
XM_011533063.1:c.481G>C	XP_011531365.1:p.Asp161His
XM_011533064.1:c.334G>C	XP_011531366.1:p.Asp112His
XM_011533065.1:c.598G>C	XP_011531367.1:p.Asp200His
XM_005264515.4:c.505G>C	XP_005264572.1:p.Asp169His
XM_011533062.2:c.484G>C	XP_011531364.1:p.Asp162His
XM_011533064.2:c.334G>C	XP_011531366.1:p.Asp112His
NM_001382394.1:c.484G>C	NP_001369323.1:p.Asp162His
NM_001382395.1:c.505G>C	NP_001369324.1:p.Asp169His
NM_005633.4:c.505G>C MANE Select	NP_005624.2:p.Asp169His