Canonical Allele Identifier: CA768525255
Gene: SOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1467252680
gnomAD v3: 2-38984458-C-T
gnomAD v4: 2-38984458-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38984458C>T , CM000664.2:g.38984458C>T GRCh38
NC_000002.11:g.39211599C>T , CM000664.1:g.39211599C>T GRCh37
NC_000002.10:g.39065103C>T NCBI36
NG_007530.1:g.141006G>A , LRG_754:g.141006G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000685279.1:c.*1366G>A ENSP00000509424.1:n.*1366G>A
ENST00000686849.1:n.2159G>A
ENST00000690876.1:c.*2674G>A ENSP00000508955.1:n.*2674G>A
ENST00000692089.1:c.3399+3015G>A ENSP00000508626.1:n.3399+3015G>A
ENST00000402219.8:c.*1366G>A MANE Select ENSP00000384675.2:n.*1366G>A
ENST00000402219.6:c.*1366G>A ENSP00000384675.2:n.*1366G>A
ENST00000426016.5:c.*1366G>A ENSP00000387784.1:n.*1366G>A
NM_005633.3:c.*1366G>A , LRG_754t1:c.*1366G>A NP_005624.2:n.*1366G>A
XM_005264515.3:c.*1366G>A XP_005264572.1:n.*1366G>A
XM_011533060.1:c.*1366G>A XP_011531362.1:n.*1366G>A
XM_011533061.1:c.*1366G>A XP_011531363.1:n.*1366G>A
XM_011533062.1:c.*1366G>A XP_011531364.1:n.*1366G>A
XM_011533063.1:c.*1366G>A XP_011531365.1:n.*1366G>A
XM_011533064.1:c.*1366G>A XP_011531366.1:n.*1366G>A
XM_011533065.1:c.*852G>A XP_011531367.1:n.*852G>A
XM_011533066.1:c.*1366G>A XP_011531368.1:n.*1366G>A
XM_005264515.4:c.*1366G>A XP_005264572.1:n.*1366G>A
XM_011533062.2:c.*1366G>A XP_011531364.1:n.*1366G>A
XM_011533064.2:c.*1366G>A XP_011531366.1:n.*1366G>A
NM_001382394.1:c.*1366G>A NP_001369323.1:n.*1366G>A
NM_001382395.1:c.*1366G>A NP_001369324.1:n.*1366G>A
NM_005633.4:c.*1366G>A MANE Select NP_005624.2:n.*1366G>A