Canonical Allele Identifier: CA2658687404

Gene: SOS1

Linked Data

• gnomAD v4: 2-38984419-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38984419G>A , CM000664.2:g.38984419G>A	GRCh38
NC_000002.11:g.39211560G>A , CM000664.1:g.39211560G>A	GRCh37
NC_000002.10:g.39065064G>A	NCBI36
NG_007530.1:g.141045C>T , LRG_754:g.141045C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.*1405C>T	ENSP00000509424.1:n.*1405C>T
ENST00000686849.1:n.2198C>T
ENST00000690876.1:c.*2713C>T	ENSP00000508955.1:n.*2713C>T
ENST00000692089.1:c.3399+3054C>T	ENSP00000508626.1:n.3399+3054C>T
ENST00000402219.8:c.*1405C>T MANE Select	ENSP00000384675.2:n.*1405C>T
ENST00000402219.6:c.*1405C>T	ENSP00000384675.2:n.*1405C>T
ENST00000426016.5:c.*1405C>T	ENSP00000387784.1:n.*1405C>T
NM_005633.3:c.*1405C>T , LRG_754t1:c.*1405C>T	NP_005624.2:n.*1405C>T
XM_005264515.3:c.*1405C>T	XP_005264572.1:n.*1405C>T
XM_011533060.1:c.*1405C>T	XP_011531362.1:n.*1405C>T
XM_011533061.1:c.*1405C>T	XP_011531363.1:n.*1405C>T
XM_011533062.1:c.*1405C>T	XP_011531364.1:n.*1405C>T
XM_011533063.1:c.*1405C>T	XP_011531365.1:n.*1405C>T
XM_011533064.1:c.*1405C>T	XP_011531366.1:n.*1405C>T
XM_011533065.1:c.*891C>T	XP_011531367.1:n.*891C>T
XM_011533066.1:c.*1405C>T	XP_011531368.1:n.*1405C>T
XM_005264515.4:c.*1405C>T	XP_005264572.1:n.*1405C>T
XM_011533062.2:c.*1405C>T	XP_011531364.1:n.*1405C>T
XM_011533064.2:c.*1405C>T	XP_011531366.1:n.*1405C>T
NM_001382394.1:c.*1405C>T	NP_001369323.1:n.*1405C>T
NM_001382395.1:c.*1405C>T	NP_001369324.1:n.*1405C>T
NM_005633.4:c.*1405C>T MANE Select	NP_005624.2:n.*1405C>T