Canonical Allele Identifier: CA16610833

Gene: SOS1

Linked Data

• ClinVar Variation Id: 411867
• ClinVar RCV Id: RCV000475839 ; RCV000593291 ; RCV001755704 ; RCV002467821 ; RCV002496789 ; RCV002467820
• dbSNP Id: rs972166211
• gnomAD v3: 2-38986063-G-T
• gnomAD v4: 2-38986063-G-T
• MyVariant Identifiers: chr2:g.39213204G>T (hg19) ; chr2:g.38986063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38986063G>T , CM000664.2:g.38986063G>T	GRCh38
NC_000002.11:g.39213204G>T , CM000664.1:g.39213204G>T	GRCh37
NC_000002.10:g.39066708G>T	NCBI36
NG_007530.1:g.139401C>A , LRG_754:g.139401C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2530C>A	ENSP00000509424.1:p.Pro844Thr
ENST00000686849.1:n.554C>A
ENST00000690876.1:c.*1069C>A	ENSP00000508955.1:n.*1069C>A
ENST00000692089.1:c.3399+1410C>A	ENSP00000508626.1:n.3399+1410C>A
ENST00000692227.1:c.1162-700C>A	ENSP00000509138.1:n.1162-700C>A
ENST00000402219.8:c.3763C>A MANE Select	ENSP00000384675.2:p.Pro1255Thr
ENST00000395038.6:c.3718C>A	ENSP00000378479.2:p.Pro1240Thr
ENST00000402219.6:c.3763C>A	ENSP00000384675.2:p.Pro1255Thr
ENST00000426016.5:c.3763C>A	ENSP00000387784.1:p.Pro1255Thr
ENST00000469581.1:n.506C>A
NM_005633.3:c.3763C>A , LRG_754t1:c.3763C>A	NP_005624.2:p.Pro1255Thr
XM_005264515.3:c.3718C>A	XP_005264572.1:p.Pro1240Thr
XM_011533060.1:c.3856C>A	XP_011531362.1:p.Pro1286Thr
XM_011533061.1:c.3811C>A	XP_011531363.1:p.Pro1271Thr
XM_011533062.1:c.3742C>A	XP_011531364.1:p.Pro1248Thr
XM_011533063.1:c.3739C>A	XP_011531365.1:p.Pro1247Thr
XM_011533064.1:c.3592C>A	XP_011531366.1:p.Pro1198Thr
XM_011533065.1:c.3604-700C>A	XP_011531367.1:n.3604-700C>A
XM_011533066.1:c.2698C>A	XP_011531368.1:p.Pro900Thr
XM_005264515.4:c.3718C>A	XP_005264572.1:p.Pro1240Thr
XM_011533062.2:c.3742C>A	XP_011531364.1:p.Pro1248Thr
XM_011533064.2:c.3592C>A	XP_011531366.1:p.Pro1198Thr
NM_001382394.1:c.3742C>A	NP_001369323.1:p.Pro1248Thr
NM_001382395.1:c.3718C>A	NP_001369324.1:p.Pro1240Thr
NM_005633.4:c.3763C>A MANE Select	NP_005624.2:p.Pro1255Thr