Canonical Allele Identifier: CA346361427

Gene: SOS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38996986G>A , CM000664.2:g.38996986G>A	GRCh38
NC_000002.11:g.39224127G>A , CM000664.1:g.39224127G>A	GRCh37
NC_000002.10:g.39077631G>A	NCBI36
NG_007530.1:g.128478C>T , LRG_754:g.128478C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.1784C>T	ENSP00000509424.1:p.Thr595Ile
ENST00000689668.1:n.3024C>T
ENST00000690876.1:c.*323C>T	ENSP00000508955.1:n.*323C>T
ENST00000691229.1:c.2786C>T	ENSP00000510437.1:p.Thr929Ile
ENST00000692089.1:c.2906C>T	ENSP00000508626.1:p.Thr969Ile
ENST00000692227.1:c.713C>T	ENSP00000509138.1:p.Thr238Ile
ENST00000692620.1:c.*604C>T	ENSP00000509311.1:n.*604C>T
ENST00000402219.8:c.3017C>T MANE Select	ENSP00000384675.2:p.Thr1006Ile
ENST00000395038.6:c.3017C>T	ENSP00000378479.2:p.Thr1006Ile
ENST00000402219.6:c.3017C>T	ENSP00000384675.2:p.Thr1006Ile
ENST00000426016.5:c.3017C>T	ENSP00000387784.1:p.Thr1006Ile
NM_005633.3:c.3017C>T , LRG_754t1:c.3017C>T	NP_005624.2:p.Thr1006Ile
XM_005264515.3:c.3017C>T	XP_005264572.1:p.Thr1006Ile
XM_011533060.1:c.3110C>T	XP_011531362.1:p.Thr1037Ile
XM_011533061.1:c.3110C>T	XP_011531363.1:p.Thr1037Ile
XM_011533062.1:c.2996C>T	XP_011531364.1:p.Thr999Ile
XM_011533063.1:c.2993C>T	XP_011531365.1:p.Thr998Ile
XM_011533064.1:c.2846C>T	XP_011531366.1:p.Thr949Ile
XM_011533065.1:c.3110C>T	XP_011531367.1:p.Thr1037Ile
XM_011533066.1:c.1952C>T	XP_011531368.1:p.Thr651Ile
XM_005264515.4:c.3017C>T	XP_005264572.1:p.Thr1006Ile
XM_011533062.2:c.2996C>T	XP_011531364.1:p.Thr999Ile
XM_011533064.2:c.2846C>T	XP_011531366.1:p.Thr949Ile
NM_001382394.1:c.2996C>T	NP_001369323.1:p.Thr999Ile
NM_001382395.1:c.3017C>T	NP_001369324.1:p.Thr1006Ile
NM_005633.4:c.3017C>T MANE Select	NP_005624.2:p.Thr1006Ile