Canonical Allele Identifier: CA346364467

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39239480A>T (hg19) ; chr2:g.39012339A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39012339A>T , CM000664.2:g.39012339A>T	GRCh38
NC_000002.11:g.39239480A>T , CM000664.1:g.39239480A>T	GRCh37
NC_000002.10:g.39092984A>T	NCBI36
NG_007530.1:g.113125T>A , LRG_754:g.113125T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000685279.1:c.944T>A	ENSP00000509424.1:p.Met315Lys
ENST00000688043.1:n.3509T>A
ENST00000689668.1:n.2184T>A
ENST00000690514.1:n.266T>A
ENST00000690876.1:c.2066T>A	ENSP00000508955.1:p.Met689Lys
ENST00000691229.1:c.2066T>A	ENSP00000510437.1:p.Met689Lys
ENST00000692089.1:c.2066T>A	ENSP00000508626.1:p.Met689Lys
ENST00000692620.1:c.934+1121T>A	ENSP00000509311.1:n.934+1121T>A
ENST00000402219.8:c.2177T>A MANE Select	ENSP00000384675.2:p.Met726Lys
ENST00000395038.6:c.2177T>A	ENSP00000378479.2:p.Met726Lys
ENST00000402219.6:c.2177T>A	ENSP00000384675.2:p.Met726Lys
ENST00000426016.5:c.2177T>A	ENSP00000387784.1:p.Met726Lys
NM_005633.3:c.2177T>A , LRG_754t1:c.2177T>A	NP_005624.2:p.Met726Lys
XM_005264515.3:c.2177T>A	XP_005264572.1:p.Met726Lys
XM_011533060.1:c.2270T>A	XP_011531362.1:p.Met757Lys
XM_011533061.1:c.2270T>A	XP_011531363.1:p.Met757Lys
XM_011533062.1:c.2156T>A	XP_011531364.1:p.Met719Lys
XM_011533063.1:c.2153T>A	XP_011531365.1:p.Met718Lys
XM_011533064.1:c.2006T>A	XP_011531366.1:p.Met669Lys
XM_011533065.1:c.2270T>A	XP_011531367.1:p.Met757Lys
XM_011533066.1:c.1112T>A	XP_011531368.1:p.Met371Lys
XM_005264515.4:c.2177T>A	XP_005264572.1:p.Met726Lys
XM_011533062.2:c.2156T>A	XP_011531364.1:p.Met719Lys
XM_011533064.2:c.2006T>A	XP_011531366.1:p.Met669Lys
NM_001382394.1:c.2156T>A	NP_001369323.1:p.Met719Lys
NM_001382395.1:c.2177T>A	NP_001369324.1:p.Met726Lys
NM_005633.4:c.2177T>A MANE Select	NP_005624.2:p.Met726Lys