This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA425728816
Community Standard Title: NM_005633.4(SOS1):c.3138A>G (p.Arg1046=)
Gene: SOS1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38995331T>C , CM000664.2:g.38995331T>C GRCh38
NC_000002.11:g.39222472T>C , CM000664.1:g.39222472T>C GRCh37
NC_000002.10:g.39075976T>C NCBI36
NG_007530.1:g.130133A>G , LRG_754:g.130133A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.3138A>G MANE Select NP_005624.2:p.Arg1046=
ENST00000402219.8:c.3138A>G MANE Select ENSP00000384675.2:p.Arg1046=
NM_001382394.1:c.3117A>G NP_001369323.1:p.Arg1039=
NM_001382395.1:c.3138A>G NP_001369324.1:p.Arg1046=
NM_005633.3:c.3138A>G , LRG_754t1:c.3138A>G NP_005624.2:p.Arg1046=
ENST00000395038.6:c.3138A>G ENSP00000378479.2:p.Arg1046=
ENST00000402219.6:c.3138A>G ENSP00000384675.2:p.Arg1046=
ENST00000426016.5:c.3138A>G ENSP00000387784.1:p.Arg1046=
ENST00000685279.1:c.1905A>G ENSP00000509424.1:p.Arg635=
ENST00000690876.1:c.*444A>G ENSP00000508955.1:n.*444A>G
ENST00000691229.1:c.2907A>G ENSP00000510437.1:p.Arg969=
ENST00000692089.1:c.3027A>G ENSP00000508626.1:p.Arg1009=
ENST00000692227.1:c.834A>G ENSP00000509138.1:p.Arg278=
ENST00000692620.1:c.*725A>G ENSP00000509311.1:n.*725A>G
XM_005264515.3:c.3138A>G XP_005264572.1:p.Arg1046=
XM_005264515.4:c.3138A>G XP_005264572.1:p.Arg1046=
XM_011533060.1:c.3231A>G XP_011531362.1:p.Arg1077=
XM_011533061.1:c.3231A>G XP_011531363.1:p.Arg1077=
XM_011533062.1:c.3117A>G XP_011531364.1:p.Arg1039=
XM_011533062.2:c.3117A>G XP_011531364.1:p.Arg1039=
XM_011533063.1:c.3114A>G XP_011531365.1:p.Arg1038=
XM_011533064.1:c.2967A>G XP_011531366.1:p.Arg989=
XM_011533064.2:c.2967A>G XP_011531366.1:p.Arg989=
XM_011533065.1:c.3231A>G XP_011531367.1:p.Arg1077=
XM_011533066.1:c.2073A>G XP_011531368.1:p.Arg691=
Search 100 bp 5'
Search 100 bp 3'