Canonical Allele Identifier: CA346364976

Gene: SOS1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39013970C>G , CM000664.2:g.39013970C>G	GRCh38
NC_000002.11:g.39241111C>G , CM000664.1:g.39241111C>G	GRCh37
NC_000002.10:g.39094615C>G	NCBI36
NG_007530.1:g.111494G>C , LRG_754:g.111494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.727G>C	ENSP00000509424.1:p.Glu243Gln
ENST00000688043.1:n.2181G>C
ENST00000689668.1:n.1967G>C
ENST00000690876.1:c.1849G>C	ENSP00000508955.1:p.Glu617Gln
ENST00000691229.1:c.1849G>C	ENSP00000510437.1:p.Glu617Gln
ENST00000692089.1:c.1849G>C	ENSP00000508626.1:p.Glu617Gln
ENST00000692620.1:c.727G>C	ENSP00000509311.1:p.Glu243Gln
ENST00000402219.8:c.1960G>C MANE Select	ENSP00000384675.2:p.Glu654Gln
ENST00000395038.6:c.1960G>C	ENSP00000378479.2:p.Glu654Gln
ENST00000402219.6:c.1960G>C	ENSP00000384675.2:p.Glu654Gln
ENST00000426016.5:c.1960G>C	ENSP00000387784.1:p.Glu654Gln
NM_005633.3:c.1960G>C , LRG_754t1:c.1960G>C	NP_005624.2:p.Glu654Gln
XM_005264515.3:c.1960G>C	XP_005264572.1:p.Glu654Gln
XM_011533060.1:c.2053G>C	XP_011531362.1:p.Glu685Gln
XM_011533061.1:c.2053G>C	XP_011531363.1:p.Glu685Gln
XM_011533062.1:c.1939G>C	XP_011531364.1:p.Glu647Gln
XM_011533063.1:c.1936G>C	XP_011531365.1:p.Glu646Gln
XM_011533064.1:c.1789G>C	XP_011531366.1:p.Glu597Gln
XM_011533065.1:c.2053G>C	XP_011531367.1:p.Glu685Gln
XM_011533066.1:c.895G>C	XP_011531368.1:p.Glu299Gln
XM_005264515.4:c.1960G>C	XP_005264572.1:p.Glu654Gln
XM_011533062.2:c.1939G>C	XP_011531364.1:p.Glu647Gln
XM_011533064.2:c.1789G>C	XP_011531366.1:p.Glu597Gln
NM_001382394.1:c.1939G>C	NP_001369323.1:p.Glu647Gln
NM_001382395.1:c.1960G>C	NP_001369324.1:p.Glu654Gln
NM_005633.4:c.1960G>C MANE Select	NP_005624.2:p.Glu654Gln