Canonical Allele Identifier: CA1624516

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39014774A>G , CM000664.2:g.39014774A>G	GRCh38
NC_000002.11:g.39241915A>G , CM000664.1:g.39241915A>G	GRCh37
NC_000002.10:g.39095419A>G	NCBI36
NG_007530.1:g.110690T>C , LRG_754:g.110690T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.1931T>C MANE Select	NP_005624.2:p.Ile644Thr
ENST00000402219.8:c.1931T>C MANE Select	ENSP00000384675.2:p.Ile644Thr
NM_001382394.1:c.1910T>C	NP_001369323.1:p.Ile637Thr
NM_001382395.1:c.1931T>C	NP_001369324.1:p.Ile644Thr
NM_005633.3:c.1931T>C , LRG_754t1:c.1931T>C	NP_005624.2:p.Ile644Thr
ENST00000395038.6:c.1931T>C	ENSP00000378479.2:p.Ile644Thr
ENST00000402219.6:c.1931T>C	ENSP00000384675.2:p.Ile644Thr
ENST00000426016.5:c.1931T>C	ENSP00000387784.1:p.Ile644Thr
ENST00000685279.1:c.698T>C	ENSP00000509424.1:p.Ile233Thr
ENST00000688043.1:n.2152T>C
ENST00000689668.1:n.1938T>C
ENST00000690876.1:c.1820T>C	ENSP00000508955.1:p.Ile607Thr
ENST00000691229.1:c.1820T>C	ENSP00000510437.1:p.Ile607Thr
ENST00000692089.1:c.1820T>C	ENSP00000508626.1:p.Ile607Thr
ENST00000692620.1:c.698T>C	ENSP00000509311.1:p.Ile233Thr
XM_005264515.3:c.1931T>C	XP_005264572.1:p.Ile644Thr
XM_005264515.4:c.1931T>C	XP_005264572.1:p.Ile644Thr
XM_011533060.1:c.2024T>C	XP_011531362.1:p.Ile675Thr
XM_011533061.1:c.2024T>C	XP_011531363.1:p.Ile675Thr
XM_011533062.1:c.1910T>C	XP_011531364.1:p.Ile637Thr
XM_011533062.2:c.1910T>C	XP_011531364.1:p.Ile637Thr
XM_011533063.1:c.1907T>C	XP_011531365.1:p.Ile636Thr
XM_011533064.1:c.1760T>C	XP_011531366.1:p.Ile587Thr
XM_011533064.2:c.1760T>C	XP_011531366.1:p.Ile587Thr
XM_011533065.1:c.2024T>C	XP_011531367.1:p.Ile675Thr
XM_011533066.1:c.866T>C	XP_011531368.1:p.Ile289Thr