This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA45673806
Gene: SOS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38985864C>G , CM000664.2:g.38985864C>G GRCh38
NC_000002.11:g.39213005C>G , CM000664.1:g.39213005C>G GRCh37
NC_000002.10:g.39066509C>G NCBI36
NG_007530.1:g.139600G>C , LRG_754:g.139600G>C

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.3962G>C MANE Select NP_005624.2:p.Arg1321Thr
ENST00000402219.8:c.3962G>C MANE Select ENSP00000384675.2:p.Arg1321Thr
NM_001382394.1:c.3941G>C NP_001369323.1:p.Arg1314Thr
NM_001382395.1:c.3917G>C NP_001369324.1:p.Arg1306Thr
NM_005633.3:c.3962G>C , LRG_754t1:c.3962G>C NP_005624.2:p.Arg1321Thr
ENST00000395038.6:c.3917G>C ENSP00000378479.2:p.Arg1306Thr
ENST00000402219.6:c.3962G>C ENSP00000384675.2:p.Arg1321Thr
ENST00000426016.5:c.3962G>C ENSP00000387784.1:p.Arg1321Thr
ENST00000685279.1:c.2729G>C ENSP00000509424.1:p.Arg910Thr
ENST00000686849.1:n.753G>C
ENST00000690876.1:c.*1268G>C ENSP00000508955.1:n.*1268G>C
ENST00000692089.1:c.3399+1609G>C ENSP00000508626.1:n.3399+1609G>C
ENST00000692227.1:c.1162-501G>C ENSP00000509138.1:n.1162-501G>C
XM_005264515.3:c.3917G>C XP_005264572.1:p.Arg1306Thr
XM_005264515.4:c.3917G>C XP_005264572.1:p.Arg1306Thr
XM_011533060.1:c.4055G>C XP_011531362.1:p.Arg1352Thr
XM_011533061.1:c.4010G>C XP_011531363.1:p.Arg1337Thr
XM_011533062.1:c.3941G>C XP_011531364.1:p.Arg1314Thr
XM_011533062.2:c.3941G>C XP_011531364.1:p.Arg1314Thr
XM_011533063.1:c.3938G>C XP_011531365.1:p.Arg1313Thr
XM_011533064.1:c.3791G>C XP_011531366.1:p.Arg1264Thr
XM_011533064.2:c.3791G>C XP_011531366.1:p.Arg1264Thr
XM_011533065.1:c.3604-501G>C XP_011531367.1:n.3604-501G>C
XM_011533066.1:c.2897G>C XP_011531368.1:p.Arg966Thr
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