Canonical Allele Identifier: CA261714

Gene: SOS1

Linked Data

• ClinVar Variation Id: 45344
• ClinVar RCV Id: RCV000038510 ; RCV000482668 ; RCV000821113 ; RCV002321513 ; RCV002467539
• dbSNP Id: rs397517146
• MyVariant Identifiers: chr2:g.39251221T>C (hg19) ; chr2:g.39024080T>C (hg38)
• PubMed: PMID:21387466

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39024080T>C , CM000664.2:g.39024080T>C	GRCh38
NC_000002.11:g.39251221T>C , CM000664.1:g.39251221T>C	GRCh37
NC_000002.10:g.39104725T>C	NCBI36
NG_007530.1:g.101384A>G , LRG_754:g.101384A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1012A>G
ENST00000688043.1:n.1353A>G
ENST00000689668.1:n.1139A>G
ENST00000690679.1:c.1319A>G
ENST00000690876.1:c.1021A>G	ENSP00000508955.1:p.Thr341Ala
ENST00000691229.1:c.1021A>G	ENSP00000510437.1:p.Thr341Ala
ENST00000692089.1:c.1021A>G	ENSP00000508626.1:p.Thr341Ala
ENST00000402219.8:c.1132A>G MANE Select	ENSP00000384675.2:p.Thr378Ala
ENST00000395038.6:c.1132A>G	ENSP00000378479.2:p.Thr378Ala
ENST00000402219.6:c.1132A>G	ENSP00000384675.2:p.Thr378Ala
ENST00000426016.5:c.1132A>G	ENSP00000387784.1:p.Thr378Ala
NM_005633.3:c.1132A>G , LRG_754t1:c.1132A>G	NP_005624.2:p.Thr378Ala
XM_005264515.3:c.1132A>G	XP_005264572.1:p.Thr378Ala
XM_011533060.1:c.1225A>G	XP_011531362.1:p.Thr409Ala
XM_011533061.1:c.1225A>G	XP_011531363.1:p.Thr409Ala
XM_011533062.1:c.1111A>G	XP_011531364.1:p.Thr371Ala
XM_011533063.1:c.1108A>G	XP_011531365.1:p.Thr370Ala
XM_011533064.1:c.961A>G	XP_011531366.1:p.Thr321Ala
XM_011533065.1:c.1225A>G	XP_011531367.1:p.Thr409Ala
XM_011533066.1:c.67A>G	XP_011531368.1:p.Thr23Ala
XM_005264515.4:c.1132A>G	XP_005264572.1:p.Thr378Ala
XM_011533062.2:c.1111A>G	XP_011531364.1:p.Thr371Ala
XM_011533064.2:c.961A>G	XP_011531366.1:p.Thr321Ala
NM_001382394.1:c.1111A>G	NP_001369323.1:p.Thr371Ala
NM_001382395.1:c.1132A>G	NP_001369324.1:p.Thr378Ala
NM_005633.4:c.1132A>G MANE Select	NP_005624.2:p.Thr378Ala