Canonical Allele Identifier: CA425730902

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39013527G>A , CM000664.2:g.39013527G>A	GRCh38
NC_000002.11:g.39240668G>A , CM000664.1:g.39240668G>A	GRCh37
NC_000002.10:g.39094172G>A	NCBI36
NG_007530.1:g.111937C>T , LRG_754:g.111937C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.2100C>T MANE Select	NP_005624.2:p.His700=
ENST00000402219.8:c.2100C>T MANE Select	ENSP00000384675.2:p.His700=
NM_001382394.1:c.2079C>T	NP_001369323.1:p.His693=
NM_001382395.1:c.2100C>T	NP_001369324.1:p.His700=
NM_005633.3:c.2100C>T , LRG_754t1:c.2100C>T	NP_005624.2:p.His700=
ENST00000395038.6:c.2100C>T	ENSP00000378479.2:p.His700=
ENST00000402219.6:c.2100C>T	ENSP00000384675.2:p.His700=
ENST00000426016.5:c.2100C>T	ENSP00000387784.1:p.His700=
ENST00000685279.1:c.867C>T	ENSP00000509424.1:p.His289=
ENST00000688043.1:n.2321C>T
ENST00000689668.1:n.2107C>T
ENST00000690514.1:n.189C>T
ENST00000690876.1:c.1989C>T	ENSP00000508955.1:p.His663=
ENST00000691229.1:c.1989C>T	ENSP00000510437.1:p.His663=
ENST00000692089.1:c.1989C>T	ENSP00000508626.1:p.His663=
ENST00000692620.1:c.867C>T	ENSP00000509311.1:p.His289=
XM_005264515.3:c.2100C>T	XP_005264572.1:p.His700=
XM_005264515.4:c.2100C>T	XP_005264572.1:p.His700=
XM_011533060.1:c.2193C>T	XP_011531362.1:p.His731=
XM_011533061.1:c.2193C>T	XP_011531363.1:p.His731=
XM_011533062.1:c.2079C>T	XP_011531364.1:p.His693=
XM_011533062.2:c.2079C>T	XP_011531364.1:p.His693=
XM_011533063.1:c.2076C>T	XP_011531365.1:p.His692=
XM_011533064.1:c.1929C>T	XP_011531366.1:p.His643=
XM_011533064.2:c.1929C>T	XP_011531366.1:p.His643=
XM_011533065.1:c.2193C>T	XP_011531367.1:p.His731=
XM_011533066.1:c.1035C>T	XP_011531368.1:p.His345=