Canonical Allele Identifier: CA346365316
Gene: SOS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022608A>C , CM000664.2:g.39022608A>C GRCh38
NC_000002.11:g.39249749A>C , CM000664.1:g.39249749A>C GRCh37
NC_000002.10:g.39103253A>C NCBI36
NG_007530.1:g.102856T>G , LRG_754:g.102856T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1700T>G
ENST00000685279.1:c.587T>G ENSP00000509424.1:p.Ile196Ser
ENST00000688043.1:n.2041T>G
ENST00000689668.1:n.1827T>G
ENST00000690876.1:c.1709T>G ENSP00000508955.1:p.Ile570Ser
ENST00000691229.1:c.1709T>G ENSP00000510437.1:p.Ile570Ser
ENST00000692089.1:c.1709T>G ENSP00000508626.1:p.Ile570Ser
ENST00000692620.1:c.587T>G ENSP00000509311.1:p.Ile196Ser
ENST00000402219.8:c.1820T>G MANE Select ENSP00000384675.2:p.Ile607Ser
ENST00000395038.6:c.1820T>G ENSP00000378479.2:p.Ile607Ser
ENST00000402219.6:c.1820T>G ENSP00000384675.2:p.Ile607Ser
ENST00000426016.5:c.1820T>G ENSP00000387784.1:p.Ile607Ser
NM_005633.3:c.1820T>G , LRG_754t1:c.1820T>G NP_005624.2:p.Ile607Ser
XM_005264515.3:c.1820T>G XP_005264572.1:p.Ile607Ser
XM_011533060.1:c.1913T>G XP_011531362.1:p.Ile638Ser
XM_011533061.1:c.1913T>G XP_011531363.1:p.Ile638Ser
XM_011533062.1:c.1799T>G XP_011531364.1:p.Ile600Ser
XM_011533063.1:c.1796T>G XP_011531365.1:p.Ile599Ser
XM_011533064.1:c.1649T>G XP_011531366.1:p.Ile550Ser
XM_011533065.1:c.1913T>G XP_011531367.1:p.Ile638Ser
XM_011533066.1:c.755T>G XP_011531368.1:p.Ile252Ser
XM_005264515.4:c.1820T>G XP_005264572.1:p.Ile607Ser
XM_011533062.2:c.1799T>G XP_011531364.1:p.Ile600Ser
XM_011533064.2:c.1649T>G XP_011531366.1:p.Ile550Ser
NM_001382394.1:c.1799T>G NP_001369323.1:p.Ile600Ser
NM_001382395.1:c.1820T>G NP_001369324.1:p.Ile607Ser
NM_005633.4:c.1820T>G MANE Select NP_005624.2:p.Ile607Ser