Canonical Allele Identifier: CA1029592505

Gene: SOS1

Linked Data

• dbSNP Id: rs1671139484
• gnomAD v3: 2-39054594-A-G
• gnomAD v4: 2-39054594-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39054594A>G , CM000664.2:g.39054594A>G	GRCh38
NC_000002.11:g.39281735A>G , CM000664.1:g.39281735A>G	GRCh37
NC_000002.10:g.39135239A>G	NCBI36
NG_007530.1:g.70870T>C , LRG_754:g.70870T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.747+20T>C
ENST00000685782.1:n.1558+20T>C
ENST00000688189.1:n.505T>C
ENST00000689668.1:n.727+20T>C
ENST00000690679.1:c.820+20T>C
ENST00000690876.1:c.720+20T>C	ENSP00000508955.1:n.720+20T>C
ENST00000691229.1:c.720+20T>C	ENSP00000510437.1:n.720+20T>C
ENST00000692089.1:c.720+20T>C	ENSP00000508626.1:n.720+20T>C
ENST00000402219.8:c.720+20T>C MANE Select	ENSP00000384675.2:n.720+20T>C
ENST00000395038.6:c.720+20T>C	ENSP00000378479.2:n.720+20T>C
ENST00000402219.6:c.720+20T>C	ENSP00000384675.2:n.720+20T>C
ENST00000426016.5:c.720+20T>C	ENSP00000387784.1:n.720+20T>C
NM_005633.3:c.720+20T>C , LRG_754t1:c.720+20T>C	NP_005624.2:n.720+20T>C
XM_005264515.3:c.720+20T>C	XP_005264572.1:n.720+20T>C
XM_011533060.1:c.813+20T>C	XP_011531362.1:n.813+20T>C
XM_011533061.1:c.813+20T>C	XP_011531363.1:n.813+20T>C
XM_011533062.1:c.699+20T>C	XP_011531364.1:n.699+20T>C
XM_011533063.1:c.696+20T>C	XP_011531365.1:n.696+20T>C
XM_011533064.1:c.549+20T>C	XP_011531366.1:n.549+20T>C
XM_011533065.1:c.813+20T>C	XP_011531367.1:n.813+20T>C
XM_005264515.4:c.720+20T>C	XP_005264572.1:n.720+20T>C
XM_011533062.2:c.699+20T>C	XP_011531364.1:n.699+20T>C
XM_011533064.2:c.549+20T>C	XP_011531366.1:n.549+20T>C
NM_001382394.1:c.699+20T>C	NP_001369323.1:n.699+20T>C
NM_001382395.1:c.720+20T>C	NP_001369324.1:n.720+20T>C
NM_005633.4:c.720+20T>C MANE Select	NP_005624.2:n.720+20T>C