Canonical Allele Identifier: CA1624114

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38986048G>C , CM000664.2:g.38986048G>C	GRCh38
NC_000002.11:g.39213189G>C , CM000664.1:g.39213189G>C	GRCh37
NC_000002.10:g.39066693G>C	NCBI36
NG_007530.1:g.139416C>G , LRG_754:g.139416C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3778C>G MANE Select	NP_005624.2:p.Pro1260Ala
ENST00000402219.8:c.3778C>G MANE Select	ENSP00000384675.2:p.Pro1260Ala
NM_001382394.1:c.3757C>G	NP_001369323.1:p.Pro1253Ala
NM_001382395.1:c.3733C>G	NP_001369324.1:p.Pro1245Ala
NM_005633.3:c.3778C>G , LRG_754t1:c.3778C>G	NP_005624.2:p.Pro1260Ala
ENST00000395038.6:c.3733C>G	ENSP00000378479.2:p.Pro1245Ala
ENST00000402219.6:c.3778C>G	ENSP00000384675.2:p.Pro1260Ala
ENST00000426016.5:c.3778C>G	ENSP00000387784.1:p.Pro1260Ala
ENST00000469581.1:n.521C>G
ENST00000685279.1:c.2545C>G	ENSP00000509424.1:p.Pro849Ala
ENST00000686849.1:n.569C>G
ENST00000690876.1:c.*1084C>G	ENSP00000508955.1:n.*1084C>G
ENST00000692089.1:c.3399+1425C>G	ENSP00000508626.1:n.3399+1425C>G
ENST00000692227.1:c.1162-685C>G	ENSP00000509138.1:n.1162-685C>G
XM_005264515.3:c.3733C>G	XP_005264572.1:p.Pro1245Ala
XM_005264515.4:c.3733C>G	XP_005264572.1:p.Pro1245Ala
XM_011533060.1:c.3871C>G	XP_011531362.1:p.Pro1291Ala
XM_011533061.1:c.3826C>G	XP_011531363.1:p.Pro1276Ala
XM_011533062.1:c.3757C>G	XP_011531364.1:p.Pro1253Ala
XM_011533062.2:c.3757C>G	XP_011531364.1:p.Pro1253Ala
XM_011533063.1:c.3754C>G	XP_011531365.1:p.Pro1252Ala
XM_011533064.1:c.3607C>G	XP_011531366.1:p.Pro1203Ala
XM_011533064.2:c.3607C>G	XP_011531366.1:p.Pro1203Ala
XM_011533065.1:c.3604-685C>G	XP_011531367.1:n.3604-685C>G
XM_011533066.1:c.2713C>G	XP_011531368.1:p.Pro905Ala