Canonical Allele Identifier: CA346359860

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38989291C>T , CM000664.2:g.38989291C>T	GRCh38
NC_000002.11:g.39216432C>T , CM000664.1:g.39216432C>T	GRCh37
NC_000002.10:g.39069936C>T	NCBI36
NG_007530.1:g.136173G>A , LRG_754:g.136173G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3370G>A MANE Select	NP_005624.2:p.Val1124Ile
ENST00000402219.8:c.3370G>A MANE Select	ENSP00000384675.2:p.Val1124Ile
NM_001382394.1:c.3349G>A	NP_001369323.1:p.Val1117Ile
NM_001382395.1:c.3347-1700G>A	NP_001369324.1:n.3347-1700G>A
NM_005633.3:c.3370G>A , LRG_754t1:c.3370G>A	NP_005624.2:p.Val1124Ile
ENST00000395038.6:c.3347-1700G>A	ENSP00000378479.2:n.3347-1700G>A
ENST00000402219.6:c.3370G>A	ENSP00000384675.2:p.Val1124Ile
ENST00000426016.5:c.3370G>A	ENSP00000387784.1:p.Val1124Ile
ENST00000685279.1:c.2137G>A	ENSP00000509424.1:p.Val713Ile
ENST00000686849.1:n.161G>A
ENST00000690876.1:c.*676G>A	ENSP00000508955.1:n.*676G>A
ENST00000692089.1:c.3259G>A	ENSP00000508626.1:p.Val1087Ile
ENST00000692227.1:c.1043-1700G>A	ENSP00000509138.1:n.1043-1700G>A
XM_005264515.3:c.3347-1700G>A	XP_005264572.1:n.3347-1700G>A
XM_005264515.4:c.3347-1700G>A	XP_005264572.1:n.3347-1700G>A
XM_011533060.1:c.3463G>A	XP_011531362.1:p.Val1155Ile
XM_011533061.1:c.3440-1700G>A	XP_011531363.1:n.3440-1700G>A
XM_011533062.1:c.3349G>A	XP_011531364.1:p.Val1117Ile
XM_011533062.2:c.3349G>A	XP_011531364.1:p.Val1117Ile
XM_011533063.1:c.3346G>A	XP_011531365.1:p.Val1116Ile
XM_011533064.1:c.3199G>A	XP_011531366.1:p.Val1067Ile
XM_011533064.2:c.3199G>A	XP_011531366.1:p.Val1067Ile
XM_011533065.1:c.3463G>A	XP_011531367.1:p.Val1155Ile
XM_011533066.1:c.2305G>A	XP_011531368.1:p.Val769Ile