Canonical Allele Identifier: CA346361157

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38995335G>C , CM000664.2:g.38995335G>C	GRCh38
NC_000002.11:g.39222476G>C , CM000664.1:g.39222476G>C	GRCh37
NC_000002.10:g.39075980G>C	NCBI36
NG_007530.1:g.130129C>G , LRG_754:g.130129C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3134C>G MANE Select	NP_005624.2:p.Pro1045Arg
ENST00000402219.8:c.3134C>G MANE Select	ENSP00000384675.2:p.Pro1045Arg
NM_001382394.1:c.3113C>G	NP_001369323.1:p.Pro1038Arg
NM_001382395.1:c.3134C>G	NP_001369324.1:p.Pro1045Arg
NM_005633.3:c.3134C>G , LRG_754t1:c.3134C>G	NP_005624.2:p.Pro1045Arg
ENST00000395038.6:c.3134C>G	ENSP00000378479.2:p.Pro1045Arg
ENST00000402219.6:c.3134C>G	ENSP00000384675.2:p.Pro1045Arg
ENST00000426016.5:c.3134C>G	ENSP00000387784.1:p.Pro1045Arg
ENST00000685279.1:c.1901C>G	ENSP00000509424.1:p.Pro634Arg
ENST00000690876.1:c.*440C>G	ENSP00000508955.1:n.*440C>G
ENST00000691229.1:c.2903C>G	ENSP00000510437.1:p.Pro968Arg
ENST00000692089.1:c.3023C>G	ENSP00000508626.1:p.Pro1008Arg
ENST00000692227.1:c.830C>G	ENSP00000509138.1:p.Pro277Arg
ENST00000692620.1:c.*721C>G	ENSP00000509311.1:n.*721C>G
XM_005264515.3:c.3134C>G	XP_005264572.1:p.Pro1045Arg
XM_005264515.4:c.3134C>G	XP_005264572.1:p.Pro1045Arg
XM_011533060.1:c.3227C>G	XP_011531362.1:p.Pro1076Arg
XM_011533061.1:c.3227C>G	XP_011531363.1:p.Pro1076Arg
XM_011533062.1:c.3113C>G	XP_011531364.1:p.Pro1038Arg
XM_011533062.2:c.3113C>G	XP_011531364.1:p.Pro1038Arg
XM_011533063.1:c.3110C>G	XP_011531365.1:p.Pro1037Arg
XM_011533064.1:c.2963C>G	XP_011531366.1:p.Pro988Arg
XM_011533064.2:c.2963C>G	XP_011531366.1:p.Pro988Arg
XM_011533065.1:c.3227C>G	XP_011531367.1:p.Pro1076Arg
XM_011533066.1:c.2069C>G	XP_011531368.1:p.Pro690Arg