Canonical Allele Identifier: CA346365403
Gene: SOS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022650T>G , CM000664.2:g.39022650T>G GRCh38
NC_000002.11:g.39249791T>G , CM000664.1:g.39249791T>G GRCh37
NC_000002.10:g.39103295T>G NCBI36
NG_007530.1:g.102814A>C , LRG_754:g.102814A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1658A>C
ENST00000685279.1:c.545A>C ENSP00000509424.1:p.Gln182Pro
ENST00000688043.1:n.1999A>C
ENST00000689668.1:n.1785A>C
ENST00000690876.1:c.1667A>C ENSP00000508955.1:p.Gln556Pro
ENST00000691229.1:c.1667A>C ENSP00000510437.1:p.Gln556Pro
ENST00000692089.1:c.1667A>C ENSP00000508626.1:p.Gln556Pro
ENST00000692620.1:c.545A>C ENSP00000509311.1:p.Gln182Pro
ENST00000402219.8:c.1778A>C MANE Select ENSP00000384675.2:p.Gln593Pro
ENST00000395038.6:c.1778A>C ENSP00000378479.2:p.Gln593Pro
ENST00000402219.6:c.1778A>C ENSP00000384675.2:p.Gln593Pro
ENST00000426016.5:c.1778A>C ENSP00000387784.1:p.Gln593Pro
NM_005633.3:c.1778A>C , LRG_754t1:c.1778A>C NP_005624.2:p.Gln593Pro
XM_005264515.3:c.1778A>C XP_005264572.1:p.Gln593Pro
XM_011533060.1:c.1871A>C XP_011531362.1:p.Gln624Pro
XM_011533061.1:c.1871A>C XP_011531363.1:p.Gln624Pro
XM_011533062.1:c.1757A>C XP_011531364.1:p.Gln586Pro
XM_011533063.1:c.1754A>C XP_011531365.1:p.Gln585Pro
XM_011533064.1:c.1607A>C XP_011531366.1:p.Gln536Pro
XM_011533065.1:c.1871A>C XP_011531367.1:p.Gln624Pro
XM_011533066.1:c.713A>C XP_011531368.1:p.Gln238Pro
XM_005264515.4:c.1778A>C XP_005264572.1:p.Gln593Pro
XM_011533062.2:c.1757A>C XP_011531364.1:p.Gln586Pro
XM_011533064.2:c.1607A>C XP_011531366.1:p.Gln536Pro
NM_001382394.1:c.1757A>C NP_001369323.1:p.Gln586Pro
NM_001382395.1:c.1778A>C NP_001369324.1:p.Gln593Pro
NM_005633.4:c.1778A>C MANE Select NP_005624.2:p.Gln593Pro