Canonical Allele Identifier: CA1624129

Gene: SOS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38986138G>A , CM000664.2:g.38986138G>A	GRCh38
NC_000002.11:g.39213279G>A , CM000664.1:g.39213279G>A	GRCh37
NC_000002.10:g.39066783G>A	NCBI36
NG_007530.1:g.139326C>T , LRG_754:g.139326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2455C>T	ENSP00000509424.1:p.Pro819Ser
ENST00000686849.1:n.479C>T
ENST00000690876.1:c.*994C>T	ENSP00000508955.1:n.*994C>T
ENST00000692089.1:c.3399+1335C>T	ENSP00000508626.1:n.3399+1335C>T
ENST00000692227.1:c.1162-775C>T	ENSP00000509138.1:n.1162-775C>T
ENST00000402219.8:c.3688C>T MANE Select	ENSP00000384675.2:p.Pro1230Ser
ENST00000395038.6:c.3643C>T	ENSP00000378479.2:p.Pro1215Ser
ENST00000402219.6:c.3688C>T	ENSP00000384675.2:p.Pro1230Ser
ENST00000426016.5:c.3688C>T	ENSP00000387784.1:p.Pro1230Ser
ENST00000469581.1:n.431C>T
NM_005633.3:c.3688C>T , LRG_754t1:c.3688C>T	NP_005624.2:p.Pro1230Ser
XM_005264515.3:c.3643C>T	XP_005264572.1:p.Pro1215Ser
XM_011533060.1:c.3781C>T	XP_011531362.1:p.Pro1261Ser
XM_011533061.1:c.3736C>T	XP_011531363.1:p.Pro1246Ser
XM_011533062.1:c.3667C>T	XP_011531364.1:p.Pro1223Ser
XM_011533063.1:c.3664C>T	XP_011531365.1:p.Pro1222Ser
XM_011533064.1:c.3517C>T	XP_011531366.1:p.Pro1173Ser
XM_011533065.1:c.3604-775C>T	XP_011531367.1:n.3604-775C>T
XM_011533066.1:c.2623C>T	XP_011531368.1:p.Pro875Ser
XM_005264515.4:c.3643C>T	XP_005264572.1:p.Pro1215Ser
XM_011533062.2:c.3667C>T	XP_011531364.1:p.Pro1223Ser
XM_011533064.2:c.3517C>T	XP_011531366.1:p.Pro1173Ser
NM_001382394.1:c.3667C>T	NP_001369323.1:p.Pro1223Ser
NM_001382395.1:c.3643C>T	NP_001369324.1:p.Pro1215Ser
NM_005633.4:c.3688C>T MANE Select	NP_005624.2:p.Pro1230Ser