Canonical Allele Identifier: CA045732
Gene: STK11 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.1226519A>G
GRCh37 chr19:g.1226518A>G
Revel Score:
ENST00000326873 (MANE Select) 0.091
ENST00000405031 0.091
gnomAD v2:
19:1226518 A / G
gnomAD v3:
19:1226519 A / G
gnomAD v4:
chr19-1226519-A-G
Joint Max Group AF 0.00032346 (SAS)
Genomes Max Group AF 0.00054093 (SAS)
Exomes Max Group AF 0.00028126 (SAS)
ClinVar Allele:
213446
ClinVar RCV:
RCV000199162
RCV000776534
RCV001778787
ClinVar Variation:
216427
dbSNP:
565993396
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226519A>G , CM000681.2:g.1226519A>G GRCh38
NC_000019.9:g.1226518A>G , CM000681.1:g.1226518A>G GRCh37
NC_000019.8:g.1177518A>G NCBI36
NG_007460.2:g.42113A>G , LRG_319:g.42113A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2775A>G ENSP00000490268.2:n.*2775A>G
ENST00000585748.3:c.802A>G ENSP00000477641.2:p.Met268Val
ENST00000585851.2:c.1000A>G ENSP00000467912.2:p.Met334Val
ENST00000326873.12:c.1174A>G MANE Select ENSP00000324856.6:p.Met392Val
ENST00000326873.11:c.1174A>G ENSP00000324856.6:p.Met392Val
ENST00000585465.2:n.2907A>G
ENST00000586243.5:c.1174A>G ENSP00000467240.2:p.Met392Val
ENST00000589152.5:n.1872A>G
NM_000455.4:c.1174A>G , LRG_319t1:c.1174A>G NP_000446.1:p.Met392Val
XM_005259617.1:c.1169A>G XP_005259674.1:p.Tyr390Cys
XM_011528209.1:c.947A>G XP_011526511.1:p.Tyr316Cys
XM_005259617.3:c.1169A>G XP_005259674.1:p.Tyr390Cys
XM_011528209.2:c.947A>G XP_011526511.1:p.Tyr316Cys
XR_001753738.2:n.1980A>G
XR_001753740.2:n.1950A>G
NM_000455.5:c.1174A>G MANE Select NP_000446.1:p.Met392Val
Search 100 bp 5'
Search 100 bp 3'