Canonical Allele Identifier: CA1624249
Community Standard Title: NM_005633.4(SOS1):c.3114T>G (p.Pro1038=)
Gene: SOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38995355A>C , CM000664.2:g.38995355A>C GRCh38
NC_000002.11:g.39222496A>C , CM000664.1:g.39222496A>C GRCh37
NC_000002.10:g.39076000A>C NCBI36
NG_007530.1:g.130109T>G , LRG_754:g.130109T>G

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.3114T>G MANE Select NP_005624.2:p.Pro1038=
ENST00000402219.8:c.3114T>G MANE Select ENSP00000384675.2:p.Pro1038=
NM_001382394.1:c.3093T>G NP_001369323.1:p.Pro1031=
NM_001382395.1:c.3114T>G NP_001369324.1:p.Pro1038=
NM_005633.3:c.3114T>G , LRG_754t1:c.3114T>G NP_005624.2:p.Pro1038=
ENST00000395038.6:c.3114T>G ENSP00000378479.2:p.Pro1038=
ENST00000402219.6:c.3114T>G ENSP00000384675.2:p.Pro1038=
ENST00000426016.5:c.3114T>G ENSP00000387784.1:p.Pro1038=
ENST00000685279.1:c.1881T>G ENSP00000509424.1:p.Pro627=
ENST00000690876.1:c.*420T>G ENSP00000508955.1:n.*420T>G
ENST00000691229.1:c.2883T>G ENSP00000510437.1:p.Pro961=
ENST00000692089.1:c.3003T>G ENSP00000508626.1:p.Pro1001=
ENST00000692227.1:c.810T>G ENSP00000509138.1:p.Pro270=
ENST00000692620.1:c.*701T>G ENSP00000509311.1:n.*701T>G
XM_005264515.3:c.3114T>G XP_005264572.1:p.Pro1038=
XM_005264515.4:c.3114T>G XP_005264572.1:p.Pro1038=
XM_011533060.1:c.3207T>G XP_011531362.1:p.Pro1069=
XM_011533061.1:c.3207T>G XP_011531363.1:p.Pro1069=
XM_011533062.1:c.3093T>G XP_011531364.1:p.Pro1031=
XM_011533062.2:c.3093T>G XP_011531364.1:p.Pro1031=
XM_011533063.1:c.3090T>G XP_011531365.1:p.Pro1030=
XM_011533064.1:c.2943T>G XP_011531366.1:p.Pro981=
XM_011533064.2:c.2943T>G XP_011531366.1:p.Pro981=
XM_011533065.1:c.3207T>G XP_011531367.1:p.Pro1069=
XM_011533066.1:c.2049T>G XP_011531368.1:p.Pro683=