Canonical Allele Identifier: CA1139656902

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38989265C>G , CM000664.2:g.38989265C>G	GRCh38
NC_000002.11:g.39216406C>G , CM000664.1:g.39216406C>G	GRCh37
NC_000002.10:g.39069910C>G	NCBI36
NG_007530.1:g.136199G>C , LRG_754:g.136199G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005633.4:c.3391+5G>C MANE Select	NP_005624.2:n.3391+5G>C
ENST00000402219.8:c.3391+5G>C MANE Select	ENSP00000384675.2:n.3391+5G>C
NM_001382394.1:c.3370+5G>C	NP_001369323.1:n.3370+5G>C
NM_001382395.1:c.3347-1674G>C	NP_001369324.1:n.3347-1674G>C
NM_005633.3:c.3391+5G>C , LRG_754t1:c.3391+5G>C	NP_005624.2:n.3391+5G>C
ENST00000395038.6:c.3347-1674G>C	ENSP00000378479.2:n.3347-1674G>C
ENST00000402219.6:c.3391+5G>C	ENSP00000384675.2:n.3391+5G>C
ENST00000426016.5:c.3391+5G>C	ENSP00000387784.1:n.3391+5G>C
ENST00000685279.1:c.2158+5G>C	ENSP00000509424.1:n.2158+5G>C
ENST00000686849.1:n.182+5G>C
ENST00000690876.1:c.*697+5G>C	ENSP00000508955.1:n.*697+5G>C
ENST00000692089.1:c.3280+5G>C	ENSP00000508626.1:n.3280+5G>C
ENST00000692227.1:c.1043-1674G>C	ENSP00000509138.1:n.1043-1674G>C
XM_005264515.3:c.3347-1674G>C	XP_005264572.1:n.3347-1674G>C
XM_005264515.4:c.3347-1674G>C	XP_005264572.1:n.3347-1674G>C
XM_011533060.1:c.3484+5G>C	XP_011531362.1:n.3484+5G>C
XM_011533061.1:c.3440-1674G>C	XP_011531363.1:n.3440-1674G>C
XM_011533062.1:c.3370+5G>C	XP_011531364.1:n.3370+5G>C
XM_011533062.2:c.3370+5G>C	XP_011531364.1:n.3370+5G>C
XM_011533063.1:c.3367+5G>C	XP_011531365.1:n.3367+5G>C
XM_011533064.1:c.3220+5G>C	XP_011531366.1:n.3220+5G>C
XM_011533064.2:c.3220+5G>C	XP_011531366.1:n.3220+5G>C
XM_011533065.1:c.3484+5G>C	XP_011531367.1:n.3484+5G>C
XM_011533066.1:c.2326+5G>C	XP_011531368.1:n.2326+5G>C