Canonical Allele Identifier: CA346366612

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39250322T>A (hg19) ; chr2:g.39023181T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023181T>A , CM000664.2:g.39023181T>A	GRCh38
NC_000002.11:g.39250322T>A , CM000664.1:g.39250322T>A	GRCh37
NC_000002.10:g.39103826T>A	NCBI36
NG_007530.1:g.102283A>T , LRG_754:g.102283A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1127A>T
ENST00000685279.1:c.14A>T	ENSP00000509424.1:p.Gln5Leu
ENST00000688043.1:n.1468A>T
ENST00000689668.1:n.1254A>T
ENST00000690679.1:c.1434A>T
ENST00000690876.1:c.1136A>T	ENSP00000508955.1:p.Gln379Leu
ENST00000691229.1:c.1136A>T	ENSP00000510437.1:p.Gln379Leu
ENST00000692089.1:c.1136A>T	ENSP00000508626.1:p.Gln379Leu
ENST00000692620.1:c.14A>T	ENSP00000509311.1:p.Gln5Leu
ENST00000402219.8:c.1247A>T MANE Select	ENSP00000384675.2:p.Gln416Leu
ENST00000395038.6:c.1247A>T	ENSP00000378479.2:p.Gln416Leu
ENST00000402219.6:c.1247A>T	ENSP00000384675.2:p.Gln416Leu
ENST00000426016.5:c.1247A>T	ENSP00000387784.1:p.Gln416Leu
ENST00000472480.1:n.91A>T
NM_005633.3:c.1247A>T , LRG_754t1:c.1247A>T	NP_005624.2:p.Gln416Leu
XM_005264515.3:c.1247A>T	XP_005264572.1:p.Gln416Leu
XM_011533060.1:c.1340A>T	XP_011531362.1:p.Gln447Leu
XM_011533061.1:c.1340A>T	XP_011531363.1:p.Gln447Leu
XM_011533062.1:c.1226A>T	XP_011531364.1:p.Gln409Leu
XM_011533063.1:c.1223A>T	XP_011531365.1:p.Gln408Leu
XM_011533064.1:c.1076A>T	XP_011531366.1:p.Gln359Leu
XM_011533065.1:c.1340A>T	XP_011531367.1:p.Gln447Leu
XM_011533066.1:c.182A>T	XP_011531368.1:p.Gln61Leu
XM_005264515.4:c.1247A>T	XP_005264572.1:p.Gln416Leu
XM_011533062.2:c.1226A>T	XP_011531364.1:p.Gln409Leu
XM_011533064.2:c.1076A>T	XP_011531366.1:p.Gln359Leu
NM_001382394.1:c.1226A>T	NP_001369323.1:p.Gln409Leu
NM_001382395.1:c.1247A>T	NP_001369324.1:p.Gln416Leu
NM_005633.4:c.1247A>T MANE Select	NP_005624.2:p.Gln416Leu