Canonical Allele Identifier: CA1246140186

Gene: SOS1

Linked Data

• ClinVar Variation Id: 1245981
• ClinVar RCV Id: RCV001654073 ; RCV002072998 ; RCV002468280 ; RCV002468281
• dbSNP Id: rs1669853901

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023233A>G , CM000664.2:g.39023233A>G	GRCh38
NC_000002.11:g.39250374A>G , CM000664.1:g.39250374A>G	GRCh37
NC_000002.10:g.39103878A>G	NCBI36
NG_007530.1:g.102231T>C , LRG_754:g.102231T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1083-8T>C
ENST00000685279.1:c.-31-8T>C	ENSP00000509424.1:n.-31-8T>C
ENST00000688043.1:n.1424-8T>C
ENST00000689668.1:n.1210-8T>C
ENST00000690679.1:c.1390-8T>C
ENST00000690876.1:c.1092-8T>C	ENSP00000508955.1:n.1092-8T>C
ENST00000691229.1:c.1092-8T>C	ENSP00000510437.1:n.1092-8T>C
ENST00000692089.1:c.1092-8T>C	ENSP00000508626.1:n.1092-8T>C
ENST00000692620.1:c.-31-8T>C	ENSP00000509311.1:n.-31-8T>C
ENST00000402219.8:c.1203-8T>C MANE Select	ENSP00000384675.2:n.1203-8T>C
ENST00000395038.6:c.1203-8T>C	ENSP00000378479.2:n.1203-8T>C
ENST00000402219.6:c.1203-8T>C	ENSP00000384675.2:n.1203-8T>C
ENST00000426016.5:c.1203-8T>C	ENSP00000387784.1:n.1203-8T>C
ENST00000472480.1:n.47-8T>C
NM_005633.3:c.1203-8T>C , LRG_754t1:c.1203-8T>C	NP_005624.2:n.1203-8T>C
XM_005264515.3:c.1203-8T>C	XP_005264572.1:n.1203-8T>C
XM_011533060.1:c.1296-8T>C	XP_011531362.1:n.1296-8T>C
XM_011533061.1:c.1296-8T>C	XP_011531363.1:n.1296-8T>C
XM_011533062.1:c.1182-8T>C	XP_011531364.1:n.1182-8T>C
XM_011533063.1:c.1179-8T>C	XP_011531365.1:n.1179-8T>C
XM_011533064.1:c.1032-8T>C	XP_011531366.1:n.1032-8T>C
XM_011533065.1:c.1296-8T>C	XP_011531367.1:n.1296-8T>C
XM_011533066.1:c.138-8T>C	XP_011531368.1:n.138-8T>C
XM_005264515.4:c.1203-8T>C	XP_005264572.1:n.1203-8T>C
XM_011533062.2:c.1182-8T>C	XP_011531364.1:n.1182-8T>C
XM_011533064.2:c.1032-8T>C	XP_011531366.1:n.1032-8T>C
NM_001382394.1:c.1182-8T>C	NP_001369323.1:n.1182-8T>C
NM_001382395.1:c.1203-8T>C	NP_001369324.1:n.1203-8T>C
NM_005633.4:c.1203-8T>C MANE Select	NP_005624.2:n.1203-8T>C