Canonical Allele Identifier: CA346367811

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39051266G>A , CM000664.2:g.39051266G>A	GRCh38
NC_000002.11:g.39278407G>A , CM000664.1:g.39278407G>A	GRCh37
NC_000002.10:g.39131911G>A	NCBI36
NG_007530.1:g.74198C>T , LRG_754:g.74198C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.742C>T MANE Select	NP_005624.2:p.Arg248Cys
ENST00000402219.8:c.742C>T MANE Select	ENSP00000384675.2:p.Arg248Cys
NM_001382394.1:c.721C>T	NP_001369323.1:p.Arg241Cys
NM_001382395.1:c.742C>T	NP_001369324.1:p.Arg248Cys
NM_005633.3:c.742C>T , LRG_754t1:c.742C>T	NP_005624.2:p.Arg248Cys
ENST00000395038.6:c.742C>T	ENSP00000378479.2:p.Arg248Cys
ENST00000402219.6:c.742C>T	ENSP00000384675.2:p.Arg248Cys
ENST00000426016.5:c.742C>T	ENSP00000387784.1:p.Arg248Cys
ENST00000461545.1:n.92C>T
ENST00000461545.2:n.769C>T
ENST00000472480.2:n.622C>T
ENST00000685782.1:n.1580C>T
ENST00000689668.1:n.749C>T
ENST00000690679.1:c.842C>T
ENST00000690876.1:c.742C>T	ENSP00000508955.1:p.Arg248Cys
ENST00000691229.1:c.742C>T	ENSP00000510437.1:p.Arg248Cys
ENST00000692089.1:c.742C>T	ENSP00000508626.1:p.Arg248Cys
XM_005264515.3:c.742C>T	XP_005264572.1:p.Arg248Cys
XM_005264515.4:c.742C>T	XP_005264572.1:p.Arg248Cys
XM_011533060.1:c.835C>T	XP_011531362.1:p.Arg279Cys
XM_011533061.1:c.835C>T	XP_011531363.1:p.Arg279Cys
XM_011533062.1:c.721C>T	XP_011531364.1:p.Arg241Cys
XM_011533062.2:c.721C>T	XP_011531364.1:p.Arg241Cys
XM_011533063.1:c.718C>T	XP_011531365.1:p.Arg240Cys
XM_011533064.1:c.571C>T	XP_011531366.1:p.Arg191Cys
XM_011533064.2:c.571C>T	XP_011531366.1:p.Arg191Cys
XM_011533065.1:c.835C>T	XP_011531367.1:p.Arg279Cys