Canonical Allele Identifier: CA1624463
Community Standard Title: NM_005633.4(SOS1):c.2097C>T (p.His699=)
Gene: SOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39013530G>A , CM000664.2:g.39013530G>A GRCh38
NC_000002.11:g.39240671G>A , CM000664.1:g.39240671G>A GRCh37
NC_000002.10:g.39094175G>A NCBI36
NG_007530.1:g.111934C>T , LRG_754:g.111934C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.2097C>T MANE Select NP_005624.2:p.His699=
ENST00000402219.8:c.2097C>T MANE Select ENSP00000384675.2:p.His699=
NM_001382394.1:c.2076C>T NP_001369323.1:p.His692=
NM_001382395.1:c.2097C>T NP_001369324.1:p.His699=
NM_005633.3:c.2097C>T , LRG_754t1:c.2097C>T NP_005624.2:p.His699=
ENST00000395038.6:c.2097C>T ENSP00000378479.2:p.His699=
ENST00000402219.6:c.2097C>T ENSP00000384675.2:p.His699=
ENST00000426016.5:c.2097C>T ENSP00000387784.1:p.His699=
ENST00000685279.1:c.864C>T ENSP00000509424.1:p.His288=
ENST00000688043.1:n.2318C>T
ENST00000689668.1:n.2104C>T
ENST00000690514.1:n.186C>T
ENST00000690876.1:c.1986C>T ENSP00000508955.1:p.His662=
ENST00000691229.1:c.1986C>T ENSP00000510437.1:p.His662=
ENST00000692089.1:c.1986C>T ENSP00000508626.1:p.His662=
ENST00000692620.1:c.864C>T ENSP00000509311.1:p.His288=
XM_005264515.3:c.2097C>T XP_005264572.1:p.His699=
XM_005264515.4:c.2097C>T XP_005264572.1:p.His699=
XM_011533060.1:c.2190C>T XP_011531362.1:p.His730=
XM_011533061.1:c.2190C>T XP_011531363.1:p.His730=
XM_011533062.1:c.2076C>T XP_011531364.1:p.His692=
XM_011533062.2:c.2076C>T XP_011531364.1:p.His692=
XM_011533063.1:c.2073C>T XP_011531365.1:p.His691=
XM_011533064.1:c.1926C>T XP_011531366.1:p.His642=
XM_011533064.2:c.1926C>T XP_011531366.1:p.His642=
XM_011533065.1:c.2190C>T XP_011531367.1:p.His730=
XM_011533066.1:c.1032C>T XP_011531368.1:p.His344=