Canonical Allele Identifier: CA181526
Community Standard Title: NM_005633.4(SOS1):c.3347-1G>A
Gene: SOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38989315C>T , CM000664.2:g.38989315C>T GRCh38
NC_000002.11:g.39216456C>T , CM000664.1:g.39216456C>T GRCh37
NC_000002.10:g.39069960C>T NCBI36
NG_007530.1:g.136149G>A , LRG_754:g.136149G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.3347-1G>A MANE Select NP_005624.2:n.3347-1G>A
ENST00000402219.8:c.3347-1G>A MANE Select ENSP00000384675.2:n.3347-1G>A
NM_001382394.1:c.3326-1G>A NP_001369323.1:n.3326-1G>A
NM_001382395.1:c.3347-1724G>A NP_001369324.1:n.3347-1724G>A
NM_005633.3:c.3347-1G>A , LRG_754t1:c.3347-1G>A NP_005624.2:n.3347-1G>A
ENST00000395038.6:c.3347-1724G>A ENSP00000378479.2:n.3347-1724G>A
ENST00000402219.6:c.3347-1G>A ENSP00000384675.2:n.3347-1G>A
ENST00000426016.5:c.3347-1G>A ENSP00000387784.1:n.3347-1G>A
ENST00000685279.1:c.2114-1G>A ENSP00000509424.1:n.2114-1G>A
ENST00000686849.1:n.137G>A
ENST00000690876.1:c.*653-1G>A ENSP00000508955.1:n.*653-1G>A
ENST00000692089.1:c.3236-1G>A ENSP00000508626.1:n.3236-1G>A
ENST00000692227.1:c.1043-1724G>A ENSP00000509138.1:n.1043-1724G>A
XM_005264515.3:c.3347-1724G>A XP_005264572.1:n.3347-1724G>A
XM_005264515.4:c.3347-1724G>A XP_005264572.1:n.3347-1724G>A
XM_011533060.1:c.3440-1G>A XP_011531362.1:n.3440-1G>A
XM_011533061.1:c.3440-1724G>A XP_011531363.1:n.3440-1724G>A
XM_011533062.1:c.3326-1G>A XP_011531364.1:n.3326-1G>A
XM_011533062.2:c.3326-1G>A XP_011531364.1:n.3326-1G>A
XM_011533063.1:c.3323-1G>A XP_011531365.1:n.3323-1G>A
XM_011533064.1:c.3176-1G>A XP_011531366.1:n.3176-1G>A
XM_011533064.2:c.3176-1G>A XP_011531366.1:n.3176-1G>A
XM_011533065.1:c.3440-1G>A XP_011531367.1:n.3440-1G>A
XM_011533066.1:c.2282-1G>A XP_011531368.1:n.2282-1G>A