Canonical Allele Identifier: CA346360344

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38995152T>C , CM000664.2:g.38995152T>C	GRCh38
NC_000002.11:g.39222293T>C , CM000664.1:g.39222293T>C	GRCh37
NC_000002.10:g.39075797T>C	NCBI36
NG_007530.1:g.130312A>G , LRG_754:g.130312A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3317A>G MANE Select	NP_005624.2:p.Asp1106Gly
ENST00000402219.8:c.3317A>G MANE Select	ENSP00000384675.2:p.Asp1106Gly
NM_001382394.1:c.3296A>G	NP_001369323.1:p.Asp1099Gly
NM_001382395.1:c.3317A>G	NP_001369324.1:p.Asp1106Gly
NM_005633.3:c.3317A>G , LRG_754t1:c.3317A>G	NP_005624.2:p.Asp1106Gly
ENST00000395038.6:c.3317A>G	ENSP00000378479.2:p.Asp1106Gly
ENST00000402219.6:c.3317A>G	ENSP00000384675.2:p.Asp1106Gly
ENST00000426016.5:c.3317A>G	ENSP00000387784.1:p.Asp1106Gly
ENST00000685279.1:c.2084A>G	ENSP00000509424.1:p.Asp695Gly
ENST00000690876.1:c.*623A>G	ENSP00000508955.1:n.*623A>G
ENST00000691229.1:c.3086A>G	ENSP00000510437.1:p.Asp1029Gly
ENST00000692089.1:c.3206A>G	ENSP00000508626.1:p.Asp1069Gly
ENST00000692227.1:c.1013A>G	ENSP00000509138.1:p.Asp338Gly
ENST00000692620.1:c.*904A>G	ENSP00000509311.1:n.*904A>G
XM_005264515.3:c.3317A>G	XP_005264572.1:p.Asp1106Gly
XM_005264515.4:c.3317A>G	XP_005264572.1:p.Asp1106Gly
XM_011533060.1:c.3410A>G	XP_011531362.1:p.Asp1137Gly
XM_011533061.1:c.3410A>G	XP_011531363.1:p.Asp1137Gly
XM_011533062.1:c.3296A>G	XP_011531364.1:p.Asp1099Gly
XM_011533062.2:c.3296A>G	XP_011531364.1:p.Asp1099Gly
XM_011533063.1:c.3293A>G	XP_011531365.1:p.Asp1098Gly
XM_011533064.1:c.3146A>G	XP_011531366.1:p.Asp1049Gly
XM_011533064.2:c.3146A>G	XP_011531366.1:p.Asp1049Gly
XM_011533065.1:c.3410A>G	XP_011531367.1:p.Asp1137Gly
XM_011533066.1:c.2252A>G	XP_011531368.1:p.Asp751Gly