Canonical Allele Identifier: CA346365990

Gene: SOS1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022912C>G , CM000664.2:g.39022912C>G	GRCh38
NC_000002.11:g.39250053C>G , CM000664.1:g.39250053C>G	GRCh37
NC_000002.10:g.39103557C>G	NCBI36
NG_007530.1:g.102552G>C , LRG_754:g.102552G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1396G>C
ENST00000685279.1:c.283G>C	ENSP00000509424.1:p.Asp95His
ENST00000688043.1:n.1737G>C
ENST00000689668.1:n.1523G>C
ENST00000690876.1:c.1405G>C	ENSP00000508955.1:p.Asp469His
ENST00000691229.1:c.1405G>C	ENSP00000510437.1:p.Asp469His
ENST00000692089.1:c.1405G>C	ENSP00000508626.1:p.Asp469His
ENST00000692620.1:c.283G>C	ENSP00000509311.1:p.Asp95His
ENST00000402219.8:c.1516G>C MANE Select	ENSP00000384675.2:p.Asp506His
ENST00000395038.6:c.1516G>C	ENSP00000378479.2:p.Asp506His
ENST00000402219.6:c.1516G>C	ENSP00000384675.2:p.Asp506His
ENST00000426016.5:c.1516G>C	ENSP00000387784.1:p.Asp506His
ENST00000472480.1:n.360G>C
NM_005633.3:c.1516G>C , LRG_754t1:c.1516G>C	NP_005624.2:p.Asp506His
XM_005264515.3:c.1516G>C	XP_005264572.1:p.Asp506His
XM_011533060.1:c.1609G>C	XP_011531362.1:p.Asp537His
XM_011533061.1:c.1609G>C	XP_011531363.1:p.Asp537His
XM_011533062.1:c.1495G>C	XP_011531364.1:p.Asp499His
XM_011533063.1:c.1492G>C	XP_011531365.1:p.Asp498His
XM_011533064.1:c.1345G>C	XP_011531366.1:p.Asp449His
XM_011533065.1:c.1609G>C	XP_011531367.1:p.Asp537His
XM_011533066.1:c.451G>C	XP_011531368.1:p.Asp151His
XM_005264515.4:c.1516G>C	XP_005264572.1:p.Asp506His
XM_011533062.2:c.1495G>C	XP_011531364.1:p.Asp499His
XM_011533064.2:c.1345G>C	XP_011531366.1:p.Asp449His
NM_001382394.1:c.1495G>C	NP_001369323.1:p.Asp499His
NM_001382395.1:c.1516G>C	NP_001369324.1:p.Asp506His
NM_005633.4:c.1516G>C MANE Select	NP_005624.2:p.Asp506His