Canonical Allele Identifier: CA256582

Gene: SOS1

Linked Data

• ClinVar Variation Id: 12873
• ClinVar RCV Id: RCV000013733 ; RCV000159161 ; RCV000211853 ; RCV000818949
• dbSNP Id: rs267607080
• COSMIC: COSM5498786
• MyVariant Identifiers: chr2:g.39250275A>G (hg19) ; chr2:g.39023134A>G (hg38)
• PubMed: PMID:17143282 ; PMID:17586837 ; PMID:19438935 ; PMID:21387466 ; PMID:26785492

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023134A>G , CM000664.2:g.39023134A>G	GRCh38
NC_000002.11:g.39250275A>G , CM000664.1:g.39250275A>G	GRCh37
NC_000002.10:g.39103779A>G	NCBI36
NG_007530.1:g.102330T>C , LRG_754:g.102330T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1174T>C
ENST00000685279.1:c.61T>C	ENSP00000509424.1:p.Trp21Arg
ENST00000688043.1:n.1515T>C
ENST00000689668.1:n.1301T>C
ENST00000690876.1:c.1183T>C	ENSP00000508955.1:p.Trp395Arg
ENST00000691229.1:c.1183T>C	ENSP00000510437.1:p.Trp395Arg
ENST00000692089.1:c.1183T>C	ENSP00000508626.1:p.Trp395Arg
ENST00000692620.1:c.61T>C	ENSP00000509311.1:p.Trp21Arg
ENST00000402219.8:c.1294T>C MANE Select	ENSP00000384675.2:p.Trp432Arg
ENST00000395038.6:c.1294T>C	ENSP00000378479.2:p.Trp432Arg
ENST00000402219.6:c.1294T>C	ENSP00000384675.2:p.Trp432Arg
ENST00000426016.5:c.1294T>C	ENSP00000387784.1:p.Trp432Arg
ENST00000472480.1:n.138T>C
NM_005633.3:c.1294T>C , LRG_754t1:c.1294T>C	NP_005624.2:p.Trp432Arg
XM_005264515.3:c.1294T>C	XP_005264572.1:p.Trp432Arg
XM_011533060.1:c.1387T>C	XP_011531362.1:p.Trp463Arg
XM_011533061.1:c.1387T>C	XP_011531363.1:p.Trp463Arg
XM_011533062.1:c.1273T>C	XP_011531364.1:p.Trp425Arg
XM_011533063.1:c.1270T>C	XP_011531365.1:p.Trp424Arg
XM_011533064.1:c.1123T>C	XP_011531366.1:p.Trp375Arg
XM_011533065.1:c.1387T>C	XP_011531367.1:p.Trp463Arg
XM_011533066.1:c.229T>C	XP_011531368.1:p.Trp77Arg
XM_005264515.4:c.1294T>C	XP_005264572.1:p.Trp432Arg
XM_011533062.2:c.1273T>C	XP_011531364.1:p.Trp425Arg
XM_011533064.2:c.1123T>C	XP_011531366.1:p.Trp375Arg
NM_001382394.1:c.1273T>C	NP_001369323.1:p.Trp425Arg
NM_001382395.1:c.1294T>C	NP_001369324.1:p.Trp432Arg
NM_005633.4:c.1294T>C MANE Select	NP_005624.2:p.Trp432Arg