Canonical Allele Identifier: CA297199

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38985969G>A , CM000664.2:g.38985969G>A	GRCh38
NC_000002.11:g.39213110G>A , CM000664.1:g.39213110G>A	GRCh37
NC_000002.10:g.39066614G>A	NCBI36
NG_007530.1:g.139495C>T , LRG_754:g.139495C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3857C>T MANE Select	NP_005624.2:p.Ser1286Phe
ENST00000402219.8:c.3857C>T MANE Select	ENSP00000384675.2:p.Ser1286Phe
NM_001382394.1:c.3836C>T	NP_001369323.1:p.Ser1279Phe
NM_001382395.1:c.3812C>T	NP_001369324.1:p.Ser1271Phe
NM_005633.3:c.3857C>T , LRG_754t1:c.3857C>T	NP_005624.2:p.Ser1286Phe
ENST00000395038.6:c.3812C>T	ENSP00000378479.2:p.Ser1271Phe
ENST00000402219.6:c.3857C>T	ENSP00000384675.2:p.Ser1286Phe
ENST00000426016.5:c.3857C>T	ENSP00000387784.1:p.Ser1286Phe
ENST00000685279.1:c.2624C>T	ENSP00000509424.1:p.Ser875Phe
ENST00000686849.1:n.648C>T
ENST00000690876.1:c.*1163C>T	ENSP00000508955.1:n.*1163C>T
ENST00000692089.1:c.3399+1504C>T	ENSP00000508626.1:n.3399+1504C>T
ENST00000692227.1:c.1162-606C>T	ENSP00000509138.1:n.1162-606C>T
XM_005264515.3:c.3812C>T	XP_005264572.1:p.Ser1271Phe
XM_005264515.4:c.3812C>T	XP_005264572.1:p.Ser1271Phe
XM_011533060.1:c.3950C>T	XP_011531362.1:p.Ser1317Phe
XM_011533061.1:c.3905C>T	XP_011531363.1:p.Ser1302Phe
XM_011533062.1:c.3836C>T	XP_011531364.1:p.Ser1279Phe
XM_011533062.2:c.3836C>T	XP_011531364.1:p.Ser1279Phe
XM_011533063.1:c.3833C>T	XP_011531365.1:p.Ser1278Phe
XM_011533064.1:c.3686C>T	XP_011531366.1:p.Ser1229Phe
XM_011533064.2:c.3686C>T	XP_011531366.1:p.Ser1229Phe
XM_011533065.1:c.3604-606C>T	XP_011531367.1:n.3604-606C>T
XM_011533066.1:c.2792C>T	XP_011531368.1:p.Ser931Phe