Canonical Allele Identifier: CA346363944
Gene: SOS1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39010690A>G , CM000664.2:g.39010690A>G GRCh38
NC_000002.11:g.39237831A>G , CM000664.1:g.39237831A>G GRCh37
NC_000002.10:g.39091335A>G NCBI36
NG_007530.1:g.114774T>C , LRG_754:g.114774T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000685279.1:c.1171T>C ENSP00000509424.1:p.Ser391Pro
ENST00000689668.1:n.2411T>C
ENST00000690876.1:c.2293T>C ENSP00000508955.1:p.Ser765Pro
ENST00000691229.1:c.2279+1436T>C ENSP00000510437.1:n.2279+1436T>C
ENST00000692089.1:c.2293T>C ENSP00000508626.1:p.Ser765Pro
ENST00000692227.1:c.100T>C ENSP00000509138.1:p.Ser34Pro
ENST00000692620.1:c.948T>C ENSP00000509311.1:p.His316=
ENST00000402219.8:c.2404T>C MANE Select ENSP00000384675.2:p.Ser802Pro
ENST00000395038.6:c.2404T>C ENSP00000378479.2:p.Ser802Pro
ENST00000402219.6:c.2404T>C ENSP00000384675.2:p.Ser802Pro
ENST00000426016.5:c.2404T>C ENSP00000387784.1:p.Ser802Pro
NM_005633.3:c.2404T>C , LRG_754t1:c.2404T>C NP_005624.2:p.Ser802Pro
XM_005264515.3:c.2404T>C XP_005264572.1:p.Ser802Pro
XM_011533060.1:c.2497T>C XP_011531362.1:p.Ser833Pro
XM_011533061.1:c.2497T>C XP_011531363.1:p.Ser833Pro
XM_011533062.1:c.2383T>C XP_011531364.1:p.Ser795Pro
XM_011533063.1:c.2380T>C XP_011531365.1:p.Ser794Pro
XM_011533064.1:c.2233T>C XP_011531366.1:p.Ser745Pro
XM_011533065.1:c.2497T>C XP_011531367.1:p.Ser833Pro
XM_011533066.1:c.1339T>C XP_011531368.1:p.Ser447Pro
XM_005264515.4:c.2404T>C XP_005264572.1:p.Ser802Pro
XM_011533062.2:c.2383T>C XP_011531364.1:p.Ser795Pro
XM_011533064.2:c.2233T>C XP_011531366.1:p.Ser745Pro
NM_001382394.1:c.2383T>C NP_001369323.1:p.Ser795Pro
NM_001382395.1:c.2404T>C NP_001369324.1:p.Ser802Pro
NM_005633.4:c.2404T>C MANE Select NP_005624.2:p.Ser802Pro