Canonical Allele Identifier: CA1624125

Gene: SOS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38986119G>A , CM000664.2:g.38986119G>A	GRCh38
NC_000002.11:g.39213260G>A , CM000664.1:g.39213260G>A	GRCh37
NC_000002.10:g.39066764G>A	NCBI36
NG_007530.1:g.139345C>T , LRG_754:g.139345C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2474C>T	ENSP00000509424.1:p.Pro825Leu
ENST00000686849.1:n.498C>T
ENST00000690876.1:c.*1013C>T	ENSP00000508955.1:n.*1013C>T
ENST00000692089.1:c.3399+1354C>T	ENSP00000508626.1:n.3399+1354C>T
ENST00000692227.1:c.1162-756C>T	ENSP00000509138.1:n.1162-756C>T
ENST00000402219.8:c.3707C>T MANE Select	ENSP00000384675.2:p.Pro1236Leu
ENST00000395038.6:c.3662C>T	ENSP00000378479.2:p.Pro1221Leu
ENST00000402219.6:c.3707C>T	ENSP00000384675.2:p.Pro1236Leu
ENST00000426016.5:c.3707C>T	ENSP00000387784.1:p.Pro1236Leu
ENST00000469581.1:n.450C>T
NM_005633.3:c.3707C>T , LRG_754t1:c.3707C>T	NP_005624.2:p.Pro1236Leu
XM_005264515.3:c.3662C>T	XP_005264572.1:p.Pro1221Leu
XM_011533060.1:c.3800C>T	XP_011531362.1:p.Pro1267Leu
XM_011533061.1:c.3755C>T	XP_011531363.1:p.Pro1252Leu
XM_011533062.1:c.3686C>T	XP_011531364.1:p.Pro1229Leu
XM_011533063.1:c.3683C>T	XP_011531365.1:p.Pro1228Leu
XM_011533064.1:c.3536C>T	XP_011531366.1:p.Pro1179Leu
XM_011533065.1:c.3604-756C>T	XP_011531367.1:n.3604-756C>T
XM_011533066.1:c.2642C>T	XP_011531368.1:p.Pro881Leu
XM_005264515.4:c.3662C>T	XP_005264572.1:p.Pro1221Leu
XM_011533062.2:c.3686C>T	XP_011531364.1:p.Pro1229Leu
XM_011533064.2:c.3536C>T	XP_011531366.1:p.Pro1179Leu
NM_001382394.1:c.3686C>T	NP_001369323.1:p.Pro1229Leu
NM_001382395.1:c.3662C>T	NP_001369324.1:p.Pro1221Leu
NM_005633.4:c.3707C>T MANE Select	NP_005624.2:p.Pro1236Leu