Canonical Allele Identifier: CA136126
Community Standard Title: NM_005633.4(SOS1):c.2997T>C (p.Asn999=)
Gene: SOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38997006A>G , CM000664.2:g.38997006A>G GRCh38
NC_000002.11:g.39224147A>G , CM000664.1:g.39224147A>G GRCh37
NC_000002.10:g.39077651A>G NCBI36
NG_007530.1:g.128458T>C , LRG_754:g.128458T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.2997T>C MANE Select NP_005624.2:p.Asn999=
ENST00000402219.8:c.2997T>C MANE Select ENSP00000384675.2:p.Asn999=
NM_001382394.1:c.2976T>C NP_001369323.1:p.Asn992=
NM_001382395.1:c.2997T>C NP_001369324.1:p.Asn999=
NM_005633.3:c.2997T>C , LRG_754t1:c.2997T>C NP_005624.2:p.Asn999=
ENST00000395038.6:c.2997T>C ENSP00000378479.2:p.Asn999=
ENST00000402219.6:c.2997T>C ENSP00000384675.2:p.Asn999=
ENST00000426016.5:c.2997T>C ENSP00000387784.1:p.Asn999=
ENST00000685279.1:c.1764T>C ENSP00000509424.1:p.Asn588=
ENST00000689668.1:n.3004T>C
ENST00000690876.1:c.*303T>C ENSP00000508955.1:n.*303T>C
ENST00000691229.1:c.2766T>C ENSP00000510437.1:p.Asn922=
ENST00000692089.1:c.2886T>C ENSP00000508626.1:p.Asn962=
ENST00000692227.1:c.693T>C ENSP00000509138.1:p.Asn231=
ENST00000692620.1:c.*584T>C ENSP00000509311.1:n.*584T>C
XM_005264515.3:c.2997T>C XP_005264572.1:p.Asn999=
XM_005264515.4:c.2997T>C XP_005264572.1:p.Asn999=
XM_011533060.1:c.3090T>C XP_011531362.1:p.Asn1030=
XM_011533061.1:c.3090T>C XP_011531363.1:p.Asn1030=
XM_011533062.1:c.2976T>C XP_011531364.1:p.Asn992=
XM_011533062.2:c.2976T>C XP_011531364.1:p.Asn992=
XM_011533063.1:c.2973T>C XP_011531365.1:p.Asn991=
XM_011533064.1:c.2826T>C XP_011531366.1:p.Asn942=
XM_011533064.2:c.2826T>C XP_011531366.1:p.Asn942=
XM_011533065.1:c.3090T>C XP_011531367.1:p.Asn1030=
XM_011533066.1:c.1932T>C XP_011531368.1:p.Asn644=