Canonical Allele Identifier: CA16042458
Gene: SOS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372565
ClinVar RCV Id: RCV000414005
dbSNP Id: rs1057517861

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39023112T>G , CM000664.2:g.39023112T>G GRCh38
NC_000002.10:g.39103757T>G NCBI36
NC_000002.11:g.39250253T>G , CM000664.1:g.39250253T>G GRCh37
NG_007530.1:g.102352A>C , LRG_754:g.102352A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395038.6:c.1316A>C ENSP00000378479.2:p.Gln439Pro
ENST00000402219.6:c.1316A>C ENSP00000384675.2:p.Gln439Pro
ENST00000426016.5:c.1316A>C ENSP00000387784.1:p.Gln439Pro
ENST00000472480.1:n.160A>C
NM_005633.3:c.1316A>C , LRG_754t1:c.1316A>C NP_005624.2:p.Gln439Pro
XM_005264515.3:c.1316A>C XP_005264572.1:p.Gln439Pro
XM_011533060.1:c.1409A>C XP_011531362.1:p.Gln470Pro
XM_011533061.1:c.1409A>C XP_011531363.1:p.Gln470Pro
XM_011533062.1:c.1295A>C XP_011531364.1:p.Gln432Pro
XM_011533063.1:c.1292A>C XP_011531365.1:p.Gln431Pro
XM_011533064.1:c.1145A>C XP_011531366.1:p.Gln382Pro
XM_011533065.1:c.1409A>C XP_011531367.1:p.Gln470Pro
XM_011533066.1:c.251A>C XP_011531368.1:p.Gln84Pro
XM_005264515.4:c.1316A>C
XM_011533062.2:c.1295A>C
XM_011533064.2:c.1145A>C