Canonical Allele Identifier: CA346373978
Gene: SOS1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39058765A>C , CM000664.2:g.39058765A>C GRCh38
NC_000002.11:g.39285906A>C , CM000664.1:g.39285906A>C GRCh37
NC_000002.10:g.39139410A>C NCBI36
NG_007530.1:g.66699T>G , LRG_754:g.66699T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461545.2:n.280T>G
ENST00000685782.1:n.1091T>G
ENST00000688189.1:n.18T>G
ENST00000689668.1:n.260T>G
ENST00000690679.1:c.353T>G
ENST00000690876.1:c.253T>G ENSP00000508955.1:p.Trp85Gly
ENST00000691229.1:c.253T>G ENSP00000510437.1:p.Trp85Gly
ENST00000692089.1:c.253T>G ENSP00000508626.1:p.Trp85Gly
ENST00000402219.8:c.253T>G MANE Select ENSP00000384675.2:p.Trp85Gly
ENST00000395038.6:c.253T>G ENSP00000378479.2:p.Trp85Gly
ENST00000402219.6:c.253T>G ENSP00000384675.2:p.Trp85Gly
ENST00000426016.5:c.253T>G ENSP00000387784.1:p.Trp85Gly
ENST00000451331.1:c.82T>G ENSP00000393899.1:p.Trp28Gly
NM_005633.3:c.253T>G , LRG_754t1:c.253T>G NP_005624.2:p.Trp85Gly
XM_005264515.3:c.253T>G XP_005264572.1:p.Trp85Gly
XM_011533060.1:c.346T>G XP_011531362.1:p.Trp116Gly
XM_011533061.1:c.346T>G XP_011531363.1:p.Trp116Gly
XM_011533062.1:c.232T>G XP_011531364.1:p.Trp78Gly
XM_011533063.1:c.229T>G XP_011531365.1:p.Trp77Gly
XM_011533064.1:c.82T>G XP_011531366.1:p.Trp28Gly
XM_011533065.1:c.346T>G XP_011531367.1:p.Trp116Gly
XM_005264515.4:c.253T>G XP_005264572.1:p.Trp85Gly
XM_011533062.2:c.232T>G XP_011531364.1:p.Trp78Gly
XM_011533064.2:c.82T>G XP_011531366.1:p.Trp28Gly
NM_001382394.1:c.232T>G NP_001369323.1:p.Trp78Gly
NM_001382395.1:c.253T>G NP_001369324.1:p.Trp85Gly
NM_005633.4:c.253T>G MANE Select NP_005624.2:p.Trp85Gly