Canonical Allele Identifier: CA45673769

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38985839A>G , CM000664.2:g.38985839A>G	GRCh38
NC_000002.11:g.39212980A>G , CM000664.1:g.39212980A>G	GRCh37
NC_000002.10:g.39066484A>G	NCBI36
NG_007530.1:g.139625T>C , LRG_754:g.139625T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3987T>C MANE Select	NP_005624.2:p.Asn1329=
ENST00000402219.8:c.3987T>C MANE Select	ENSP00000384675.2:p.Asn1329=
NM_001382394.1:c.3966T>C	NP_001369323.1:p.Asn1322=
NM_001382395.1:c.3942T>C	NP_001369324.1:p.Asn1314=
NM_005633.3:c.3987T>C , LRG_754t1:c.3987T>C	NP_005624.2:p.Asn1329=
ENST00000395038.6:c.3942T>C	ENSP00000378479.2:p.Asn1314=
ENST00000402219.6:c.3987T>C	ENSP00000384675.2:p.Asn1329=
ENST00000426016.5:c.3987T>C	ENSP00000387784.1:p.Asn1329=
ENST00000685279.1:c.2754T>C	ENSP00000509424.1:p.Asn918=
ENST00000686849.1:n.778T>C
ENST00000690876.1:c.*1293T>C	ENSP00000508955.1:n.*1293T>C
ENST00000692089.1:c.3399+1634T>C	ENSP00000508626.1:n.3399+1634T>C
ENST00000692227.1:c.1162-476T>C	ENSP00000509138.1:n.1162-476T>C
XM_005264515.3:c.3942T>C	XP_005264572.1:p.Asn1314=
XM_005264515.4:c.3942T>C	XP_005264572.1:p.Asn1314=
XM_011533060.1:c.4080T>C	XP_011531362.1:p.Asn1360=
XM_011533061.1:c.4035T>C	XP_011531363.1:p.Asn1345=
XM_011533062.1:c.3966T>C	XP_011531364.1:p.Asn1322=
XM_011533062.2:c.3966T>C	XP_011531364.1:p.Asn1322=
XM_011533063.1:c.3963T>C	XP_011531365.1:p.Asn1321=
XM_011533064.1:c.3816T>C	XP_011531366.1:p.Asn1272=
XM_011533064.2:c.3816T>C	XP_011531366.1:p.Asn1272=
XM_011533065.1:c.3604-476T>C	XP_011531367.1:n.3604-476T>C
XM_011533066.1:c.2922T>C	XP_011531368.1:p.Asn974=