Canonical Allele Identifier: CA297301
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 40666
dbSNP Id: rs138459502
gnomAD v2: 2-39250300-G-C
gnomAD v3: 2-39023159-G-C
gnomAD v4: 2-39023159-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39023159G>C , CM000664.2:g.39023159G>C GRCh38
NC_000002.11:g.39250300G>C , CM000664.1:g.39250300G>C GRCh37
NC_000002.10:g.39103804G>C NCBI36
NG_007530.1:g.102305C>G , LRG_754:g.102305C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1149C>G
ENST00000685279.1:c.36C>G ENSP00000509424.1:p.Asn12Lys
ENST00000688043.1:n.1490C>G
ENST00000689668.1:n.1276C>G
ENST00000690679.1:c.1456C>G
ENST00000690876.1:c.1158C>G ENSP00000508955.1:p.Asn386Lys
ENST00000691229.1:c.1158C>G ENSP00000510437.1:p.Asn386Lys
ENST00000692089.1:c.1158C>G ENSP00000508626.1:p.Asn386Lys
ENST00000692620.1:c.36C>G ENSP00000509311.1:p.Asn12Lys
ENST00000402219.8:c.1269C>G MANE Select ENSP00000384675.2:p.Asn423Lys
ENST00000395038.6:c.1269C>G ENSP00000378479.2:p.Asn423Lys
ENST00000402219.6:c.1269C>G ENSP00000384675.2:p.Asn423Lys
ENST00000426016.5:c.1269C>G ENSP00000387784.1:p.Asn423Lys
ENST00000472480.1:n.113C>G
NM_005633.3:c.1269C>G , LRG_754t1:c.1269C>G NP_005624.2:p.Asn423Lys
XM_005264515.3:c.1269C>G XP_005264572.1:p.Asn423Lys
XM_011533060.1:c.1362C>G XP_011531362.1:p.Asn454Lys
XM_011533061.1:c.1362C>G XP_011531363.1:p.Asn454Lys
XM_011533062.1:c.1248C>G XP_011531364.1:p.Asn416Lys
XM_011533063.1:c.1245C>G XP_011531365.1:p.Asn415Lys
XM_011533064.1:c.1098C>G XP_011531366.1:p.Asn366Lys
XM_011533065.1:c.1362C>G XP_011531367.1:p.Asn454Lys
XM_011533066.1:c.204C>G XP_011531368.1:p.Asn68Lys
XM_005264515.4:c.1269C>G XP_005264572.1:p.Asn423Lys
XM_011533062.2:c.1248C>G XP_011531364.1:p.Asn416Lys
XM_011533064.2:c.1098C>G XP_011531366.1:p.Asn366Lys
NM_001382394.1:c.1248C>G NP_001369323.1:p.Asn416Lys
NM_001382395.1:c.1269C>G NP_001369324.1:p.Asn423Lys
NM_005633.4:c.1269C>G MANE Select NP_005624.2:p.Asn423Lys