Canonical Allele Identifier: CA346359664

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38987532G>A , CM000664.2:g.38987532G>A	GRCh38
NC_000002.11:g.39214673G>A , CM000664.1:g.39214673G>A	GRCh37
NC_000002.10:g.39068177G>A	NCBI36
NG_007530.1:g.137932C>T , LRG_754:g.137932C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3451C>T MANE Select	NP_005624.2:p.Pro1151Ser
ENST00000402219.8:c.3451C>T MANE Select	ENSP00000384675.2:p.Pro1151Ser
NM_001382394.1:c.3430C>T	NP_001369323.1:p.Pro1144Ser
NM_001382395.1:c.3406C>T	NP_001369324.1:p.Pro1136Ser
NM_005633.3:c.3451C>T , LRG_754t1:c.3451C>T	NP_005624.2:p.Pro1151Ser
ENST00000395038.6:c.3406C>T	ENSP00000378479.2:p.Pro1136Ser
ENST00000402219.6:c.3451C>T	ENSP00000384675.2:p.Pro1151Ser
ENST00000426016.5:c.3451C>T	ENSP00000387784.1:p.Pro1151Ser
ENST00000469581.1:n.194C>T
ENST00000685279.1:c.2218C>T	ENSP00000509424.1:p.Pro740Ser
ENST00000686849.1:n.242C>T
ENST00000690876.1:c.*757C>T	ENSP00000508955.1:n.*757C>T
ENST00000692089.1:c.3340C>T	ENSP00000508626.1:p.Pro1114Ser
ENST00000692227.1:c.1102C>T	ENSP00000509138.1:p.Pro368Ser
XM_005264515.3:c.3406C>T	XP_005264572.1:p.Pro1136Ser
XM_005264515.4:c.3406C>T	XP_005264572.1:p.Pro1136Ser
XM_011533060.1:c.3544C>T	XP_011531362.1:p.Pro1182Ser
XM_011533061.1:c.3499C>T	XP_011531363.1:p.Pro1167Ser
XM_011533062.1:c.3430C>T	XP_011531364.1:p.Pro1144Ser
XM_011533062.2:c.3430C>T	XP_011531364.1:p.Pro1144Ser
XM_011533063.1:c.3427C>T	XP_011531365.1:p.Pro1143Ser
XM_011533064.1:c.3280C>T	XP_011531366.1:p.Pro1094Ser
XM_011533064.2:c.3280C>T	XP_011531366.1:p.Pro1094Ser
XM_011533065.1:c.3544C>T	XP_011531367.1:p.Pro1182Ser
XM_011533066.1:c.2386C>T	XP_011531368.1:p.Pro796Ser