Canonical Allele Identifier: CA346365047

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39014770T>C , CM000664.2:g.39014770T>C	GRCh38
NC_000002.11:g.39241911T>C , CM000664.1:g.39241911T>C	GRCh37
NC_000002.10:g.39095415T>C	NCBI36
NG_007530.1:g.110694A>G , LRG_754:g.110694A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.1935A>G MANE Select	NP_005624.2:p.Ile645Met
ENST00000402219.8:c.1935A>G MANE Select	ENSP00000384675.2:p.Ile645Met
NM_001382394.1:c.1914A>G	NP_001369323.1:p.Ile638Met
NM_001382395.1:c.1935A>G	NP_001369324.1:p.Ile645Met
NM_005633.3:c.1935A>G , LRG_754t1:c.1935A>G	NP_005624.2:p.Ile645Met
ENST00000395038.6:c.1935A>G	ENSP00000378479.2:p.Ile645Met
ENST00000402219.6:c.1935A>G	ENSP00000384675.2:p.Ile645Met
ENST00000426016.5:c.1935A>G	ENSP00000387784.1:p.Ile645Met
ENST00000685279.1:c.702A>G	ENSP00000509424.1:p.Ile234Met
ENST00000688043.1:n.2156A>G
ENST00000689668.1:n.1942A>G
ENST00000690876.1:c.1824A>G	ENSP00000508955.1:p.Ile608Met
ENST00000691229.1:c.1824A>G	ENSP00000510437.1:p.Ile608Met
ENST00000692089.1:c.1824A>G	ENSP00000508626.1:p.Ile608Met
ENST00000692620.1:c.702A>G	ENSP00000509311.1:p.Ile234Met
XM_005264515.3:c.1935A>G	XP_005264572.1:p.Ile645Met
XM_005264515.4:c.1935A>G	XP_005264572.1:p.Ile645Met
XM_011533060.1:c.2028A>G	XP_011531362.1:p.Ile676Met
XM_011533061.1:c.2028A>G	XP_011531363.1:p.Ile676Met
XM_011533062.1:c.1914A>G	XP_011531364.1:p.Ile638Met
XM_011533062.2:c.1914A>G	XP_011531364.1:p.Ile638Met
XM_011533063.1:c.1911A>G	XP_011531365.1:p.Ile637Met
XM_011533064.1:c.1764A>G	XP_011531366.1:p.Ile588Met
XM_011533064.2:c.1764A>G	XP_011531366.1:p.Ile588Met
XM_011533065.1:c.2028A>G	XP_011531367.1:p.Ile676Met
XM_011533066.1:c.870A>G	XP_011531368.1:p.Ile290Met