Canonical Allele Identifier: CA178021
Community Standard Title: NM_005633.4(SOS1):c.2238T>C (p.Asn746=)
Gene: SOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39012278A>G , CM000664.2:g.39012278A>G GRCh38
NC_000002.11:g.39239419A>G , CM000664.1:g.39239419A>G GRCh37
NC_000002.10:g.39092923A>G NCBI36
NG_007530.1:g.113186T>C , LRG_754:g.113186T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.2238T>C MANE Select NP_005624.2:p.Asn746=
ENST00000402219.8:c.2238T>C MANE Select ENSP00000384675.2:p.Asn746=
NM_001382394.1:c.2217T>C NP_001369323.1:p.Asn739=
NM_001382395.1:c.2238T>C NP_001369324.1:p.Asn746=
NM_005633.3:c.2238T>C , LRG_754t1:c.2238T>C NP_005624.2:p.Asn746=
ENST00000395038.6:c.2238T>C ENSP00000378479.2:p.Asn746=
ENST00000402219.6:c.2238T>C ENSP00000384675.2:p.Asn746=
ENST00000426016.5:c.2238T>C ENSP00000387784.1:p.Asn746=
ENST00000685279.1:c.1005T>C ENSP00000509424.1:p.Asn335=
ENST00000688043.1:n.3570T>C
ENST00000689668.1:n.2245T>C
ENST00000690514.1:n.327T>C
ENST00000690876.1:c.2127T>C ENSP00000508955.1:p.Asn709=
ENST00000691229.1:c.2127T>C ENSP00000510437.1:p.Asn709=
ENST00000692089.1:c.2127T>C ENSP00000508626.1:p.Asn709=
ENST00000692620.1:c.934+1182T>C ENSP00000509311.1:n.934+1182T>C
XM_005264515.3:c.2238T>C XP_005264572.1:p.Asn746=
XM_005264515.4:c.2238T>C XP_005264572.1:p.Asn746=
XM_011533060.1:c.2331T>C XP_011531362.1:p.Asn777=
XM_011533061.1:c.2331T>C XP_011531363.1:p.Asn777=
XM_011533062.1:c.2217T>C XP_011531364.1:p.Asn739=
XM_011533062.2:c.2217T>C XP_011531364.1:p.Asn739=
XM_011533063.1:c.2214T>C XP_011531365.1:p.Asn738=
XM_011533064.1:c.2067T>C XP_011531366.1:p.Asn689=
XM_011533064.2:c.2067T>C XP_011531366.1:p.Asn689=
XM_011533065.1:c.2331T>C XP_011531367.1:p.Asn777=
XM_011533066.1:c.1173T>C XP_011531368.1:p.Asn391=