Canonical Allele Identifier: CA1624798
Community Standard Title: NM_005633.4(SOS1):c.376G>A (p.Val126Ile)
Gene: SOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39056836C>T , CM000664.2:g.39056836C>T GRCh38
NC_000002.11:g.39283977C>T , CM000664.1:g.39283977C>T GRCh37
NC_000002.10:g.39137481C>T NCBI36
NG_007530.1:g.68628G>A , LRG_754:g.68628G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.376G>A MANE Select NP_005624.2:p.Val126Ile
ENST00000402219.8:c.376G>A MANE Select ENSP00000384675.2:p.Val126Ile
NM_001382394.1:c.355G>A NP_001369323.1:p.Val119Ile
NM_001382395.1:c.376G>A NP_001369324.1:p.Val126Ile
NM_005633.3:c.376G>A , LRG_754t1:c.376G>A NP_005624.2:p.Val126Ile
ENST00000395038.6:c.376G>A ENSP00000378479.2:p.Val126Ile
ENST00000402219.6:c.376G>A ENSP00000384675.2:p.Val126Ile
ENST00000426016.5:c.376G>A ENSP00000387784.1:p.Val126Ile
ENST00000451331.1:c.205G>A ENSP00000393899.1:p.Val69Ile
ENST00000461545.2:n.403G>A
ENST00000685782.1:n.1214G>A
ENST00000688189.1:n.141G>A
ENST00000689668.1:n.383G>A
ENST00000690679.1:c.476G>A
ENST00000690876.1:c.376G>A ENSP00000508955.1:p.Val126Ile
ENST00000691229.1:c.376G>A ENSP00000510437.1:p.Val126Ile
ENST00000692089.1:c.376G>A ENSP00000508626.1:p.Val126Ile
XM_005264515.3:c.376G>A XP_005264572.1:p.Val126Ile
XM_005264515.4:c.376G>A XP_005264572.1:p.Val126Ile
XM_011533060.1:c.469G>A XP_011531362.1:p.Val157Ile
XM_011533061.1:c.469G>A XP_011531363.1:p.Val157Ile
XM_011533062.1:c.355G>A XP_011531364.1:p.Val119Ile
XM_011533062.2:c.355G>A XP_011531364.1:p.Val119Ile
XM_011533063.1:c.352G>A XP_011531365.1:p.Val118Ile
XM_011533064.1:c.205G>A XP_011531366.1:p.Val69Ile
XM_011533064.2:c.205G>A XP_011531366.1:p.Val69Ile
XM_011533065.1:c.469G>A XP_011531367.1:p.Val157Ile