Canonical Allele Identifier: CA183755

Gene: SOS1

Linked Data

• ClinVar Variation Id: 179112
• ClinVar RCV Id: RCV000155897 ; RCV000680364 ; RCV002291573 ; RCV002345510 ; RCV001857535
• dbSNP Id: rs727504636
• ExAC: 2:39213261 G / T
• gnomAD v2: 2-39213261-G-T
• gnomAD v3: 2-38986120-G-T
• gnomAD v4: 2-38986120-G-T
• MyVariant Identifiers: chr2:g.39213261G>T (hg19) ; chr2:g.38986120G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38986120G>T , CM000664.2:g.38986120G>T	GRCh38
NC_000002.11:g.39213261G>T , CM000664.1:g.39213261G>T	GRCh37
NC_000002.10:g.39066765G>T	NCBI36
NG_007530.1:g.139344C>A , LRG_754:g.139344C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2473C>A	ENSP00000509424.1:p.Pro825Thr
ENST00000686849.1:n.497C>A
ENST00000690876.1:c.*1012C>A	ENSP00000508955.1:n.*1012C>A
ENST00000692089.1:c.3399+1353C>A	ENSP00000508626.1:n.3399+1353C>A
ENST00000692227.1:c.1162-757C>A	ENSP00000509138.1:n.1162-757C>A
ENST00000402219.8:c.3706C>A MANE Select	ENSP00000384675.2:p.Pro1236Thr
ENST00000395038.6:c.3661C>A	ENSP00000378479.2:p.Pro1221Thr
ENST00000402219.6:c.3706C>A	ENSP00000384675.2:p.Pro1236Thr
ENST00000426016.5:c.3706C>A	ENSP00000387784.1:p.Pro1236Thr
ENST00000469581.1:n.449C>A
NM_005633.3:c.3706C>A , LRG_754t1:c.3706C>A	NP_005624.2:p.Pro1236Thr
XM_005264515.3:c.3661C>A	XP_005264572.1:p.Pro1221Thr
XM_011533060.1:c.3799C>A	XP_011531362.1:p.Pro1267Thr
XM_011533061.1:c.3754C>A	XP_011531363.1:p.Pro1252Thr
XM_011533062.1:c.3685C>A	XP_011531364.1:p.Pro1229Thr
XM_011533063.1:c.3682C>A	XP_011531365.1:p.Pro1228Thr
XM_011533064.1:c.3535C>A	XP_011531366.1:p.Pro1179Thr
XM_011533065.1:c.3604-757C>A	XP_011531367.1:n.3604-757C>A
XM_011533066.1:c.2641C>A	XP_011531368.1:p.Pro881Thr
XM_005264515.4:c.3661C>A	XP_005264572.1:p.Pro1221Thr
XM_011533062.2:c.3685C>A	XP_011531364.1:p.Pro1229Thr
XM_011533064.2:c.3535C>A	XP_011531366.1:p.Pro1179Thr
NM_001382394.1:c.3685C>A	NP_001369323.1:p.Pro1229Thr
NM_001382395.1:c.3661C>A	NP_001369324.1:p.Pro1221Thr
NM_005633.4:c.3706C>A MANE Select	NP_005624.2:p.Pro1236Thr