Canonical Allele Identifier: CA2658715467
Gene: SOS1 HGNC NCBI

Linked Data

gnomAD v4: 2-39022544-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022544G>T , CM000664.2:g.39022544G>T GRCh38
NC_000002.11:g.39249685G>T , CM000664.1:g.39249685G>T GRCh37
NC_000002.10:g.39103189G>T NCBI36
NG_007530.1:g.102920C>A , LRG_754:g.102920C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1764C>A
ENST00000685279.1:c.625+26C>A ENSP00000509424.1:n.625+26C>A
ENST00000688043.1:n.2079+26C>A
ENST00000689668.1:n.1865+26C>A
ENST00000690876.1:c.1747+26C>A ENSP00000508955.1:n.1747+26C>A
ENST00000691229.1:c.1747+26C>A ENSP00000510437.1:n.1747+26C>A
ENST00000692089.1:c.1747+26C>A ENSP00000508626.1:n.1747+26C>A
ENST00000692620.1:c.625+26C>A ENSP00000509311.1:n.625+26C>A
ENST00000402219.8:c.1858+26C>A MANE Select ENSP00000384675.2:n.1858+26C>A
ENST00000395038.6:c.1858+26C>A ENSP00000378479.2:n.1858+26C>A
ENST00000402219.6:c.1858+26C>A ENSP00000384675.2:n.1858+26C>A
ENST00000426016.5:c.1858+26C>A ENSP00000387784.1:n.1858+26C>A
NM_005633.3:c.1858+26C>A , LRG_754t1:c.1858+26C>A NP_005624.2:n.1858+26C>A
XM_005264515.3:c.1858+26C>A XP_005264572.1:n.1858+26C>A
XM_011533060.1:c.1951+26C>A XP_011531362.1:n.1951+26C>A
XM_011533061.1:c.1951+26C>A XP_011531363.1:n.1951+26C>A
XM_011533062.1:c.1837+26C>A XP_011531364.1:n.1837+26C>A
XM_011533063.1:c.1834+26C>A XP_011531365.1:n.1834+26C>A
XM_011533064.1:c.1687+26C>A XP_011531366.1:n.1687+26C>A
XM_011533065.1:c.1951+26C>A XP_011531367.1:n.1951+26C>A
XM_011533066.1:c.793+26C>A XP_011531368.1:n.793+26C>A
XM_005264515.4:c.1858+26C>A XP_005264572.1:n.1858+26C>A
XM_011533062.2:c.1837+26C>A XP_011531364.1:n.1837+26C>A
XM_011533064.2:c.1687+26C>A XP_011531366.1:n.1687+26C>A
NM_001382394.1:c.1837+26C>A NP_001369323.1:n.1837+26C>A
NM_001382395.1:c.1858+26C>A NP_001369324.1:n.1858+26C>A
NM_005633.4:c.1858+26C>A MANE Select NP_005624.2:n.1858+26C>A