Canonical Allele Identifier: CA346365297
Gene: SOS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022598T>C , CM000664.2:g.39022598T>C GRCh38
NC_000002.11:g.39249739T>C , CM000664.1:g.39249739T>C GRCh37
NC_000002.10:g.39103243T>C NCBI36
NG_007530.1:g.102866A>G , LRG_754:g.102866A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1710A>G
ENST00000685279.1:c.597A>G ENSP00000509424.1:p.Ile199Met
ENST00000688043.1:n.2051A>G
ENST00000689668.1:n.1837A>G
ENST00000690876.1:c.1719A>G ENSP00000508955.1:p.Ile573Met
ENST00000691229.1:c.1719A>G ENSP00000510437.1:p.Ile573Met
ENST00000692089.1:c.1719A>G ENSP00000508626.1:p.Ile573Met
ENST00000692620.1:c.597A>G ENSP00000509311.1:p.Ile199Met
ENST00000402219.8:c.1830A>G MANE Select ENSP00000384675.2:p.Ile610Met
ENST00000395038.6:c.1830A>G ENSP00000378479.2:p.Ile610Met
ENST00000402219.6:c.1830A>G ENSP00000384675.2:p.Ile610Met
ENST00000426016.5:c.1830A>G ENSP00000387784.1:p.Ile610Met
NM_005633.3:c.1830A>G , LRG_754t1:c.1830A>G NP_005624.2:p.Ile610Met
XM_005264515.3:c.1830A>G XP_005264572.1:p.Ile610Met
XM_011533060.1:c.1923A>G XP_011531362.1:p.Ile641Met
XM_011533061.1:c.1923A>G XP_011531363.1:p.Ile641Met
XM_011533062.1:c.1809A>G XP_011531364.1:p.Ile603Met
XM_011533063.1:c.1806A>G XP_011531365.1:p.Ile602Met
XM_011533064.1:c.1659A>G XP_011531366.1:p.Ile553Met
XM_011533065.1:c.1923A>G XP_011531367.1:p.Ile641Met
XM_011533066.1:c.765A>G XP_011531368.1:p.Ile255Met
XM_005264515.4:c.1830A>G XP_005264572.1:p.Ile610Met
XM_011533062.2:c.1809A>G XP_011531364.1:p.Ile603Met
XM_011533064.2:c.1659A>G XP_011531366.1:p.Ile553Met
NM_001382394.1:c.1809A>G NP_001369323.1:p.Ile603Met
NM_001382395.1:c.1830A>G NP_001369324.1:p.Ile610Met
NM_005633.4:c.1830A>G MANE Select NP_005624.2:p.Ile610Met