Canonical Allele Identifier: CA2499215933

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38995110T>C , CM000664.2:g.38995110T>C	GRCh38
NC_000002.11:g.39222251T>C , CM000664.1:g.39222251T>C	GRCh37
NC_000002.10:g.39075755T>C	NCBI36
NG_007530.1:g.130354A>G , LRG_754:g.130354A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3346+13A>G MANE Select	NP_005624.2:n.3346+13A>G
ENST00000402219.8:c.3346+13A>G MANE Select	ENSP00000384675.2:n.3346+13A>G
NM_001382394.1:c.3325+13A>G	NP_001369323.1:n.3325+13A>G
NM_001382395.1:c.3346+13A>G	NP_001369324.1:n.3346+13A>G
NM_005633.3:c.3346+13A>G , LRG_754t1:c.3346+13A>G	NP_005624.2:n.3346+13A>G
ENST00000395038.6:c.3346+13A>G	ENSP00000378479.2:n.3346+13A>G
ENST00000402219.6:c.3346+13A>G	ENSP00000384675.2:n.3346+13A>G
ENST00000426016.5:c.3346+13A>G	ENSP00000387784.1:n.3346+13A>G
ENST00000685279.1:c.2113+13A>G	ENSP00000509424.1:n.2113+13A>G
ENST00000690876.1:c.*652+13A>G	ENSP00000508955.1:n.*652+13A>G
ENST00000691229.1:c.3128A>G	ENSP00000510437.1:p.Asn1043Ser
ENST00000692089.1:c.3235+13A>G	ENSP00000508626.1:n.3235+13A>G
ENST00000692227.1:c.1042+13A>G	ENSP00000509138.1:n.1042+13A>G
ENST00000692620.1:c.*946A>G	ENSP00000509311.1:n.*946A>G
XM_005264515.3:c.3346+13A>G	XP_005264572.1:n.3346+13A>G
XM_005264515.4:c.3346+13A>G	XP_005264572.1:n.3346+13A>G
XM_011533060.1:c.3439+13A>G	XP_011531362.1:n.3439+13A>G
XM_011533061.1:c.3439+13A>G	XP_011531363.1:n.3439+13A>G
XM_011533062.1:c.3325+13A>G	XP_011531364.1:n.3325+13A>G
XM_011533062.2:c.3325+13A>G	XP_011531364.1:n.3325+13A>G
XM_011533063.1:c.3322+13A>G	XP_011531365.1:n.3322+13A>G
XM_011533064.1:c.3175+13A>G	XP_011531366.1:n.3175+13A>G
XM_011533064.2:c.3175+13A>G	XP_011531366.1:n.3175+13A>G
XM_011533065.1:c.3439+13A>G	XP_011531367.1:n.3439+13A>G
XM_011533066.1:c.2281+13A>G	XP_011531368.1:n.2281+13A>G