Canonical Allele Identifier: CA425732503

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39051147T>G , CM000664.2:g.39051147T>G	GRCh38
NC_000002.11:g.39278288T>G , CM000664.1:g.39278288T>G	GRCh37
NC_000002.10:g.39131792T>G	NCBI36
NG_007530.1:g.74317A>C , LRG_754:g.74317A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.888A>C
ENST00000472480.2:n.741A>C
ENST00000685782.1:n.1699A>C
ENST00000689668.1:n.868A>C
ENST00000690679.1:c.961A>C
ENST00000690876.1:c.861A>C	ENSP00000508955.1:p.Ala287=
ENST00000691229.1:c.861A>C	ENSP00000510437.1:p.Ala287=
ENST00000692089.1:c.861A>C	ENSP00000508626.1:p.Ala287=
ENST00000402219.8:c.861A>C MANE Select	ENSP00000384675.2:p.Ala287=
ENST00000395038.6:c.861A>C	ENSP00000378479.2:p.Ala287=
ENST00000402219.6:c.861A>C	ENSP00000384675.2:p.Ala287=
ENST00000426016.5:c.861A>C	ENSP00000387784.1:p.Ala287=
ENST00000461545.1:n.211A>C
NM_005633.3:c.861A>C , LRG_754t1:c.861A>C	NP_005624.2:p.Ala287=
XM_005264515.3:c.861A>C	XP_005264572.1:p.Ala287=
XM_011533060.1:c.954A>C	XP_011531362.1:p.Ala318=
XM_011533061.1:c.954A>C	XP_011531363.1:p.Ala318=
XM_011533062.1:c.840A>C	XP_011531364.1:p.Ala280=
XM_011533063.1:c.837A>C	XP_011531365.1:p.Ala279=
XM_011533064.1:c.690A>C	XP_011531366.1:p.Ala230=
XM_011533065.1:c.954A>C	XP_011531367.1:p.Ala318=
XM_005264515.4:c.861A>C	XP_005264572.1:p.Ala287=
XM_011533062.2:c.840A>C	XP_011531364.1:p.Ala280=
XM_011533064.2:c.690A>C	XP_011531366.1:p.Ala230=
NM_001382394.1:c.840A>C	NP_001369323.1:p.Ala280=
NM_001382395.1:c.861A>C	NP_001369324.1:p.Ala287=
NM_005633.4:c.861A>C MANE Select	NP_005624.2:p.Ala287=