Canonical Allele Identifier: CA346360677
Gene: SOS1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38995234C>T , CM000664.2:g.38995234C>T GRCh38
NC_000002.11:g.39222375C>T , CM000664.1:g.39222375C>T GRCh37
NC_000002.10:g.39075879C>T NCBI36
NG_007530.1:g.130230G>A , LRG_754:g.130230G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000685279.1:c.2002G>A ENSP00000509424.1:p.Ala668Thr
ENST00000690876.1:c.*541G>A ENSP00000508955.1:n.*541G>A
ENST00000691229.1:c.3004G>A ENSP00000510437.1:p.Ala1002Thr
ENST00000692089.1:c.3124G>A ENSP00000508626.1:p.Ala1042Thr
ENST00000692227.1:c.931G>A ENSP00000509138.1:p.Ala311Thr
ENST00000692620.1:c.*822G>A ENSP00000509311.1:n.*822G>A
ENST00000402219.8:c.3235G>A MANE Select ENSP00000384675.2:p.Ala1079Thr
ENST00000395038.6:c.3235G>A ENSP00000378479.2:p.Ala1079Thr
ENST00000402219.6:c.3235G>A ENSP00000384675.2:p.Ala1079Thr
ENST00000426016.5:c.3235G>A ENSP00000387784.1:p.Ala1079Thr
NM_005633.3:c.3235G>A , LRG_754t1:c.3235G>A NP_005624.2:p.Ala1079Thr
XM_005264515.3:c.3235G>A XP_005264572.1:p.Ala1079Thr
XM_011533060.1:c.3328G>A XP_011531362.1:p.Ala1110Thr
XM_011533061.1:c.3328G>A XP_011531363.1:p.Ala1110Thr
XM_011533062.1:c.3214G>A XP_011531364.1:p.Ala1072Thr
XM_011533063.1:c.3211G>A XP_011531365.1:p.Ala1071Thr
XM_011533064.1:c.3064G>A XP_011531366.1:p.Ala1022Thr
XM_011533065.1:c.3328G>A XP_011531367.1:p.Ala1110Thr
XM_011533066.1:c.2170G>A XP_011531368.1:p.Ala724Thr
XM_005264515.4:c.3235G>A XP_005264572.1:p.Ala1079Thr
XM_011533062.2:c.3214G>A XP_011531364.1:p.Ala1072Thr
XM_011533064.2:c.3064G>A XP_011531366.1:p.Ala1022Thr
NM_001382394.1:c.3214G>A NP_001369323.1:p.Ala1072Thr
NM_001382395.1:c.3235G>A NP_001369324.1:p.Ala1079Thr
NM_005633.4:c.3235G>A MANE Select NP_005624.2:p.Ala1079Thr