Canonical Allele Identifier: CA346365778
Gene: SOS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022819A>T , CM000664.2:g.39022819A>T GRCh38
NC_000002.11:g.39249960A>T , CM000664.1:g.39249960A>T GRCh37
NC_000002.10:g.39103464A>T NCBI36
NG_007530.1:g.102645T>A , LRG_754:g.102645T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1489T>A
ENST00000685279.1:c.376T>A ENSP00000509424.1:p.Trp126Arg
ENST00000688043.1:n.1830T>A
ENST00000689668.1:n.1616T>A
ENST00000690876.1:c.1498T>A ENSP00000508955.1:p.Trp500Arg
ENST00000691229.1:c.1498T>A ENSP00000510437.1:p.Trp500Arg
ENST00000692089.1:c.1498T>A ENSP00000508626.1:p.Trp500Arg
ENST00000692620.1:c.376T>A ENSP00000509311.1:p.Trp126Arg
ENST00000402219.8:c.1609T>A MANE Select ENSP00000384675.2:p.Trp537Arg
ENST00000395038.6:c.1609T>A ENSP00000378479.2:p.Trp537Arg
ENST00000402219.6:c.1609T>A ENSP00000384675.2:p.Trp537Arg
ENST00000426016.5:c.1609T>A ENSP00000387784.1:p.Trp537Arg
NM_005633.3:c.1609T>A , LRG_754t1:c.1609T>A NP_005624.2:p.Trp537Arg
XM_005264515.3:c.1609T>A XP_005264572.1:p.Trp537Arg
XM_011533060.1:c.1702T>A XP_011531362.1:p.Trp568Arg
XM_011533061.1:c.1702T>A XP_011531363.1:p.Trp568Arg
XM_011533062.1:c.1588T>A XP_011531364.1:p.Trp530Arg
XM_011533063.1:c.1585T>A XP_011531365.1:p.Trp529Arg
XM_011533064.1:c.1438T>A XP_011531366.1:p.Trp480Arg
XM_011533065.1:c.1702T>A XP_011531367.1:p.Trp568Arg
XM_011533066.1:c.544T>A XP_011531368.1:p.Trp182Arg
XM_005264515.4:c.1609T>A XP_005264572.1:p.Trp537Arg
XM_011533062.2:c.1588T>A XP_011531364.1:p.Trp530Arg
XM_011533064.2:c.1438T>A XP_011531366.1:p.Trp480Arg
NM_001382394.1:c.1588T>A NP_001369323.1:p.Trp530Arg
NM_001382395.1:c.1609T>A NP_001369324.1:p.Trp537Arg
NM_005633.4:c.1609T>A MANE Select NP_005624.2:p.Trp537Arg