Canonical Allele Identifier: CA346360593

Gene: SOS1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38995212G>T , CM000664.2:g.38995212G>T	GRCh38
NC_000002.11:g.39222353G>T , CM000664.1:g.39222353G>T	GRCh37
NC_000002.10:g.39075857G>T	NCBI36
NG_007530.1:g.130252C>A , LRG_754:g.130252C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2024C>A	ENSP00000509424.1:p.Pro675Gln
ENST00000690876.1:c.*563C>A	ENSP00000508955.1:n.*563C>A
ENST00000691229.1:c.3026C>A	ENSP00000510437.1:p.Pro1009Gln
ENST00000692089.1:c.3146C>A	ENSP00000508626.1:p.Pro1049Gln
ENST00000692227.1:c.953C>A	ENSP00000509138.1:p.Pro318Gln
ENST00000692620.1:c.*844C>A	ENSP00000509311.1:n.*844C>A
ENST00000402219.8:c.3257C>A MANE Select	ENSP00000384675.2:p.Pro1086Gln
ENST00000395038.6:c.3257C>A	ENSP00000378479.2:p.Pro1086Gln
ENST00000402219.6:c.3257C>A	ENSP00000384675.2:p.Pro1086Gln
ENST00000426016.5:c.3257C>A	ENSP00000387784.1:p.Pro1086Gln
NM_005633.3:c.3257C>A , LRG_754t1:c.3257C>A	NP_005624.2:p.Pro1086Gln
XM_005264515.3:c.3257C>A	XP_005264572.1:p.Pro1086Gln
XM_011533060.1:c.3350C>A	XP_011531362.1:p.Pro1117Gln
XM_011533061.1:c.3350C>A	XP_011531363.1:p.Pro1117Gln
XM_011533062.1:c.3236C>A	XP_011531364.1:p.Pro1079Gln
XM_011533063.1:c.3233C>A	XP_011531365.1:p.Pro1078Gln
XM_011533064.1:c.3086C>A	XP_011531366.1:p.Pro1029Gln
XM_011533065.1:c.3350C>A	XP_011531367.1:p.Pro1117Gln
XM_011533066.1:c.2192C>A	XP_011531368.1:p.Pro731Gln
XM_005264515.4:c.3257C>A	XP_005264572.1:p.Pro1086Gln
XM_011533062.2:c.3236C>A	XP_011531364.1:p.Pro1079Gln
XM_011533064.2:c.3086C>A	XP_011531366.1:p.Pro1029Gln
NM_001382394.1:c.3236C>A	NP_001369323.1:p.Pro1079Gln
NM_001382395.1:c.3257C>A	NP_001369324.1:p.Pro1086Gln
NM_005633.4:c.3257C>A MANE Select	NP_005624.2:p.Pro1086Gln