Canonical Allele Identifier: CA1624724
Gene: SOS1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39051235T>A , CM000664.2:g.39051235T>A GRCh38
NC_000002.11:g.39278376T>A , CM000664.1:g.39278376T>A GRCh37
NC_000002.10:g.39131880T>A NCBI36
NG_007530.1:g.74229A>T , LRG_754:g.74229A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461545.2:n.800A>T
ENST00000472480.2:n.653A>T
ENST00000685782.1:n.1611A>T
ENST00000689668.1:n.780A>T
ENST00000690679.1:c.873A>T
ENST00000690876.1:c.773A>T ENSP00000508955.1:p.Lys258Met
ENST00000691229.1:c.773A>T ENSP00000510437.1:p.Lys258Met
ENST00000692089.1:c.773A>T ENSP00000508626.1:p.Lys258Met
ENST00000402219.8:c.773A>T MANE Select ENSP00000384675.2:p.Lys258Met
ENST00000395038.6:c.773A>T ENSP00000378479.2:p.Lys258Met
ENST00000402219.6:c.773A>T ENSP00000384675.2:p.Lys258Met
ENST00000426016.5:c.773A>T ENSP00000387784.1:p.Lys258Met
ENST00000461545.1:n.123A>T
NM_005633.3:c.773A>T , LRG_754t1:c.773A>T NP_005624.2:p.Lys258Met
XM_005264515.3:c.773A>T XP_005264572.1:p.Lys258Met
XM_011533060.1:c.866A>T XP_011531362.1:p.Lys289Met
XM_011533061.1:c.866A>T XP_011531363.1:p.Lys289Met
XM_011533062.1:c.752A>T XP_011531364.1:p.Lys251Met
XM_011533063.1:c.749A>T XP_011531365.1:p.Lys250Met
XM_011533064.1:c.602A>T XP_011531366.1:p.Lys201Met
XM_011533065.1:c.866A>T XP_011531367.1:p.Lys289Met
XM_005264515.4:c.773A>T XP_005264572.1:p.Lys258Met
XM_011533062.2:c.752A>T XP_011531364.1:p.Lys251Met
XM_011533064.2:c.602A>T XP_011531366.1:p.Lys201Met
NM_001382394.1:c.752A>T NP_001369323.1:p.Lys251Met
NM_001382395.1:c.773A>T NP_001369324.1:p.Lys258Met
NM_005633.4:c.773A>T MANE Select NP_005624.2:p.Lys258Met