Canonical Allele Identifier: CA261724

Gene: SOS1

Linked Data

• ClinVar Variation Id: 40680
• ClinVar RCV Id: RCV000038520 ; RCV000159172 ; RCV000550001 ; RCV002467515 ; RCV003150937 ; RCV003398589
• dbSNP Id: rs397517153
• gnomAD v4: 2-39022779-A-G
• MyVariant Identifiers: chr2:g.39249920A>G (hg19) ; chr2:g.39022779A>G (hg38)
• PubMed: PMID:17143282

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022779A>G , CM000664.2:g.39022779A>G	GRCh38
NC_000002.11:g.39249920A>G , CM000664.1:g.39249920A>G	GRCh37
NC_000002.10:g.39103424A>G	NCBI36
NG_007530.1:g.102685T>C , LRG_754:g.102685T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1529T>C
ENST00000685279.1:c.416T>C	ENSP00000509424.1:p.Leu139Pro
ENST00000688043.1:n.1870T>C
ENST00000689668.1:n.1656T>C
ENST00000690876.1:c.1538T>C	ENSP00000508955.1:p.Leu513Pro
ENST00000691229.1:c.1538T>C	ENSP00000510437.1:p.Leu513Pro
ENST00000692089.1:c.1538T>C	ENSP00000508626.1:p.Leu513Pro
ENST00000692620.1:c.416T>C	ENSP00000509311.1:p.Leu139Pro
ENST00000402219.8:c.1649T>C MANE Select	ENSP00000384675.2:p.Leu550Pro
ENST00000395038.6:c.1649T>C	ENSP00000378479.2:p.Leu550Pro
ENST00000402219.6:c.1649T>C	ENSP00000384675.2:p.Leu550Pro
ENST00000426016.5:c.1649T>C	ENSP00000387784.1:p.Leu550Pro
NM_005633.3:c.1649T>C , LRG_754t1:c.1649T>C	NP_005624.2:p.Leu550Pro
XM_005264515.3:c.1649T>C	XP_005264572.1:p.Leu550Pro
XM_011533060.1:c.1742T>C	XP_011531362.1:p.Leu581Pro
XM_011533061.1:c.1742T>C	XP_011531363.1:p.Leu581Pro
XM_011533062.1:c.1628T>C	XP_011531364.1:p.Leu543Pro
XM_011533063.1:c.1625T>C	XP_011531365.1:p.Leu542Pro
XM_011533064.1:c.1478T>C	XP_011531366.1:p.Leu493Pro
XM_011533065.1:c.1742T>C	XP_011531367.1:p.Leu581Pro
XM_011533066.1:c.584T>C	XP_011531368.1:p.Leu195Pro
XM_005264515.4:c.1649T>C	XP_005264572.1:p.Leu550Pro
XM_011533062.2:c.1628T>C	XP_011531364.1:p.Leu543Pro
XM_011533064.2:c.1478T>C	XP_011531366.1:p.Leu493Pro
NM_001382394.1:c.1628T>C	NP_001369323.1:p.Leu543Pro
NM_001382395.1:c.1649T>C	NP_001369324.1:p.Leu550Pro
NM_005633.4:c.1649T>C MANE Select	NP_005624.2:p.Leu550Pro