Canonical Allele Identifier: CA256578

Gene: SOS1

Linked Data

• ClinVar Variation Id: 12869
• ClinVar RCV Id: RCV000013729 ; RCV000038570 ; RCV000149833 ; RCV000213007 ; RCV000515403 ; RCV003450637
• dbSNP Id: rs137852812
• MyVariant Identifiers: chr2:g.39278352G>T (hg19) ; chr2:g.39051211G>T (hg38)
• PubMed: PMID:17143285 ; PMID:18678287 ; PMID:19020799 ; PMID:19077116 ; PMID:19953625 ; PMID:23665959

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39051211G>T , CM000664.2:g.39051211G>T	GRCh38
NC_000002.11:g.39278352G>T , CM000664.1:g.39278352G>T	GRCh37
NC_000002.10:g.39131856G>T	NCBI36
NG_007530.1:g.74253C>A , LRG_754:g.74253C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.824C>A
ENST00000472480.2:n.677C>A
ENST00000685782.1:n.1635C>A
ENST00000689668.1:n.804C>A
ENST00000690679.1:c.897C>A
ENST00000690876.1:c.797C>A	ENSP00000508955.1:p.Thr266Lys
ENST00000691229.1:c.797C>A	ENSP00000510437.1:p.Thr266Lys
ENST00000692089.1:c.797C>A	ENSP00000508626.1:p.Thr266Lys
ENST00000402219.8:c.797C>A MANE Select	ENSP00000384675.2:p.Thr266Lys
ENST00000395038.6:c.797C>A	ENSP00000378479.2:p.Thr266Lys
ENST00000402219.6:c.797C>A	ENSP00000384675.2:p.Thr266Lys
ENST00000426016.5:c.797C>A	ENSP00000387784.1:p.Thr266Lys
ENST00000461545.1:n.147C>A
NM_005633.3:c.797C>A , LRG_754t1:c.797C>A	NP_005624.2:p.Thr266Lys
XM_005264515.3:c.797C>A	XP_005264572.1:p.Thr266Lys
XM_011533060.1:c.890C>A	XP_011531362.1:p.Thr297Lys
XM_011533061.1:c.890C>A	XP_011531363.1:p.Thr297Lys
XM_011533062.1:c.776C>A	XP_011531364.1:p.Thr259Lys
XM_011533063.1:c.773C>A	XP_011531365.1:p.Thr258Lys
XM_011533064.1:c.626C>A	XP_011531366.1:p.Thr209Lys
XM_011533065.1:c.890C>A	XP_011531367.1:p.Thr297Lys
XM_005264515.4:c.797C>A	XP_005264572.1:p.Thr266Lys
XM_011533062.2:c.776C>A	XP_011531364.1:p.Thr259Lys
XM_011533064.2:c.626C>A	XP_011531366.1:p.Thr209Lys
NM_001382394.1:c.776C>A	NP_001369323.1:p.Thr259Lys
NM_001382395.1:c.797C>A	NP_001369324.1:p.Thr266Lys
NM_005633.4:c.797C>A MANE Select	NP_005624.2:p.Thr266Lys