Canonical Allele Identifier: CA346367758

Gene: SOS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39051241C>T , CM000664.2:g.39051241C>T	GRCh38
NC_000002.11:g.39278382C>T , CM000664.1:g.39278382C>T	GRCh37
NC_000002.10:g.39131886C>T	NCBI36
NG_007530.1:g.74223G>A , LRG_754:g.74223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.794G>A
ENST00000472480.2:n.647G>A
ENST00000685782.1:n.1605G>A
ENST00000689668.1:n.774G>A
ENST00000690679.1:c.867G>A
ENST00000690876.1:c.767G>A	ENSP00000508955.1:p.Ser256Asn
ENST00000691229.1:c.767G>A	ENSP00000510437.1:p.Ser256Asn
ENST00000692089.1:c.767G>A	ENSP00000508626.1:p.Ser256Asn
ENST00000402219.8:c.767G>A MANE Select	ENSP00000384675.2:p.Ser256Asn
ENST00000395038.6:c.767G>A	ENSP00000378479.2:p.Ser256Asn
ENST00000402219.6:c.767G>A	ENSP00000384675.2:p.Ser256Asn
ENST00000426016.5:c.767G>A	ENSP00000387784.1:p.Ser256Asn
ENST00000461545.1:n.117G>A
NM_005633.3:c.767G>A , LRG_754t1:c.767G>A	NP_005624.2:p.Ser256Asn
XM_005264515.3:c.767G>A	XP_005264572.1:p.Ser256Asn
XM_011533060.1:c.860G>A	XP_011531362.1:p.Ser287Asn
XM_011533061.1:c.860G>A	XP_011531363.1:p.Ser287Asn
XM_011533062.1:c.746G>A	XP_011531364.1:p.Ser249Asn
XM_011533063.1:c.743G>A	XP_011531365.1:p.Ser248Asn
XM_011533064.1:c.596G>A	XP_011531366.1:p.Ser199Asn
XM_011533065.1:c.860G>A	XP_011531367.1:p.Ser287Asn
XM_005264515.4:c.767G>A	XP_005264572.1:p.Ser256Asn
XM_011533062.2:c.746G>A	XP_011531364.1:p.Ser249Asn
XM_011533064.2:c.596G>A	XP_011531366.1:p.Ser199Asn
NM_001382394.1:c.746G>A	NP_001369323.1:p.Ser249Asn
NM_001382395.1:c.767G>A	NP_001369324.1:p.Ser256Asn
NM_005633.4:c.767G>A MANE Select	NP_005624.2:p.Ser256Asn