Canonical Allele Identifier: CA346363542

Gene: SOS1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39007133C>A , CM000664.2:g.39007133C>A	GRCh38
NC_000002.11:g.39234274C>A , CM000664.1:g.39234274C>A	GRCh37
NC_000002.10:g.39087778C>A	NCBI36
NG_007530.1:g.118331G>T , LRG_754:g.118331G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.1338G>T	ENSP00000509424.1:p.Glu446Asp
ENST00000689668.1:n.2578G>T
ENST00000690876.1:c.2460G>T	ENSP00000508955.1:p.Glu820Asp
ENST00000691229.1:c.2340G>T	ENSP00000510437.1:p.Glu780Asp
ENST00000692089.1:c.2460G>T	ENSP00000508626.1:p.Glu820Asp
ENST00000692227.1:c.267G>T	ENSP00000509138.1:p.Glu89Asp
ENST00000692620.1:c.*158G>T	ENSP00000509311.1:n.*158G>T
ENST00000402219.8:c.2571G>T MANE Select	ENSP00000384675.2:p.Glu857Asp
ENST00000395038.6:c.2571G>T	ENSP00000378479.2:p.Glu857Asp
ENST00000402219.6:c.2571G>T	ENSP00000384675.2:p.Glu857Asp
ENST00000426016.5:c.2571G>T	ENSP00000387784.1:p.Glu857Asp
ENST00000474390.1:n.367G>T
NM_005633.3:c.2571G>T , LRG_754t1:c.2571G>T	NP_005624.2:p.Glu857Asp
XM_005264515.3:c.2571G>T	XP_005264572.1:p.Glu857Asp
XM_011533060.1:c.2664G>T	XP_011531362.1:p.Glu888Asp
XM_011533061.1:c.2664G>T	XP_011531363.1:p.Glu888Asp
XM_011533062.1:c.2550G>T	XP_011531364.1:p.Glu850Asp
XM_011533063.1:c.2547G>T	XP_011531365.1:p.Glu849Asp
XM_011533064.1:c.2400G>T	XP_011531366.1:p.Glu800Asp
XM_011533065.1:c.2664G>T	XP_011531367.1:p.Glu888Asp
XM_011533066.1:c.1506G>T	XP_011531368.1:p.Glu502Asp
XM_005264515.4:c.2571G>T	XP_005264572.1:p.Glu857Asp
XM_011533062.2:c.2550G>T	XP_011531364.1:p.Glu850Asp
XM_011533064.2:c.2400G>T	XP_011531366.1:p.Glu800Asp
NM_001382394.1:c.2550G>T	NP_001369323.1:p.Glu850Asp
NM_001382395.1:c.2571G>T	NP_001369324.1:p.Glu857Asp
NM_005633.4:c.2571G>T MANE Select	NP_005624.2:p.Glu857Asp