Canonical Allele Identifier: CA346366245

Gene: SOS1

Linked Data

• ClinVar Variation Id: 981566
• ClinVar RCV Id: RCV001261082 ; RCV001339307
• MyVariant Identifiers: chr2:g.39250164T>A (hg19) ; chr2:g.39023023T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023023T>A , CM000664.2:g.39023023T>A	GRCh38
NC_000002.11:g.39250164T>A , CM000664.1:g.39250164T>A	GRCh37
NC_000002.10:g.39103668T>A	NCBI36
NG_007530.1:g.102441A>T , LRG_754:g.102441A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1285A>T
ENST00000685279.1:c.172A>T	ENSP00000509424.1:p.Ile58Phe
ENST00000688043.1:n.1626A>T
ENST00000689668.1:n.1412A>T
ENST00000690876.1:c.1294A>T	ENSP00000508955.1:p.Ile432Phe
ENST00000691229.1:c.1294A>T	ENSP00000510437.1:p.Ile432Phe
ENST00000692089.1:c.1294A>T	ENSP00000508626.1:p.Ile432Phe
ENST00000692620.1:c.172A>T	ENSP00000509311.1:p.Ile58Phe
ENST00000402219.8:c.1405A>T MANE Select	ENSP00000384675.2:p.Ile469Phe
ENST00000395038.6:c.1405A>T	ENSP00000378479.2:p.Ile469Phe
ENST00000402219.6:c.1405A>T	ENSP00000384675.2:p.Ile469Phe
ENST00000426016.5:c.1405A>T	ENSP00000387784.1:p.Ile469Phe
ENST00000472480.1:n.249A>T
NM_005633.3:c.1405A>T , LRG_754t1:c.1405A>T	NP_005624.2:p.Ile469Phe
XM_005264515.3:c.1405A>T	XP_005264572.1:p.Ile469Phe
XM_011533060.1:c.1498A>T	XP_011531362.1:p.Ile500Phe
XM_011533061.1:c.1498A>T	XP_011531363.1:p.Ile500Phe
XM_011533062.1:c.1384A>T	XP_011531364.1:p.Ile462Phe
XM_011533063.1:c.1381A>T	XP_011531365.1:p.Ile461Phe
XM_011533064.1:c.1234A>T	XP_011531366.1:p.Ile412Phe
XM_011533065.1:c.1498A>T	XP_011531367.1:p.Ile500Phe
XM_011533066.1:c.340A>T	XP_011531368.1:p.Ile114Phe
XM_005264515.4:c.1405A>T	XP_005264572.1:p.Ile469Phe
XM_011533062.2:c.1384A>T	XP_011531364.1:p.Ile462Phe
XM_011533064.2:c.1234A>T	XP_011531366.1:p.Ile412Phe
NM_001382394.1:c.1384A>T	NP_001369323.1:p.Ile462Phe
NM_001382395.1:c.1405A>T	NP_001369324.1:p.Ile469Phe
NM_005633.4:c.1405A>T MANE Select	NP_005624.2:p.Ile469Phe