Canonical Allele Identifier: CA1624412

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39010640A>G , CM000664.2:g.39010640A>G	GRCh38
NC_000002.11:g.39237781A>G , CM000664.1:g.39237781A>G	GRCh37
NC_000002.10:g.39091285A>G	NCBI36
NG_007530.1:g.114824T>C , LRG_754:g.114824T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.2454T>C MANE Select	NP_005624.2:p.Ser818=
ENST00000402219.8:c.2454T>C MANE Select	ENSP00000384675.2:p.Ser818=
NM_001382394.1:c.2433T>C	NP_001369323.1:p.Ser811=
NM_001382395.1:c.2454T>C	NP_001369324.1:p.Ser818=
NM_005633.3:c.2454T>C , LRG_754t1:c.2454T>C	NP_005624.2:p.Ser818=
ENST00000395038.6:c.2454T>C	ENSP00000378479.2:p.Ser818=
ENST00000402219.6:c.2454T>C	ENSP00000384675.2:p.Ser818=
ENST00000426016.5:c.2454T>C	ENSP00000387784.1:p.Ser818=
ENST00000685279.1:c.1221T>C	ENSP00000509424.1:p.Ser407=
ENST00000689668.1:n.2461T>C
ENST00000690876.1:c.2343T>C	ENSP00000508955.1:p.Ser781=
ENST00000691229.1:c.2279+1486T>C	ENSP00000510437.1:n.2279+1486T>C
ENST00000692089.1:c.2343T>C	ENSP00000508626.1:p.Ser781=
ENST00000692227.1:c.150T>C	ENSP00000509138.1:p.Ser50=
ENST00000692620.1:c.*41T>C	ENSP00000509311.1:n.*41T>C
XM_005264515.3:c.2454T>C	XP_005264572.1:p.Ser818=
XM_005264515.4:c.2454T>C	XP_005264572.1:p.Ser818=
XM_011533060.1:c.2547T>C	XP_011531362.1:p.Ser849=
XM_011533061.1:c.2547T>C	XP_011531363.1:p.Ser849=
XM_011533062.1:c.2433T>C	XP_011531364.1:p.Ser811=
XM_011533062.2:c.2433T>C	XP_011531364.1:p.Ser811=
XM_011533063.1:c.2430T>C	XP_011531365.1:p.Ser810=
XM_011533064.1:c.2283T>C	XP_011531366.1:p.Ser761=
XM_011533064.2:c.2283T>C	XP_011531366.1:p.Ser761=
XM_011533065.1:c.2547T>C	XP_011531367.1:p.Ser849=
XM_011533066.1:c.1389T>C	XP_011531368.1:p.Ser463=