Canonical Allele Identifier: CA022351
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 184219
dbSNP Id: rs765419233
gnomAD v2: 19-1226486-G-C
gnomAD v3: 19-1226487-G-C
gnomAD v4: 19-1226487-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226487G>C , CM000681.2:g.1226487G>C GRCh38
NC_000019.9:g.1226486G>C , CM000681.1:g.1226486G>C GRCh37
NC_000019.8:g.1177486G>C NCBI36
NG_007460.2:g.42081G>C , LRG_319:g.42081G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2743G>C ENSP00000490268.2:n.*2743G>C
ENST00000585748.3:c.770G>C ENSP00000477641.2:p.Gly257Ala
ENST00000585851.2:c.968G>C ENSP00000467912.2:p.Gly323Ala
ENST00000326873.12:c.1142G>C MANE Select ENSP00000324856.6:p.Gly381Ala
ENST00000326873.11:c.1142G>C ENSP00000324856.6:p.Gly381Ala
ENST00000585465.2:n.2875G>C
ENST00000586243.5:c.1142G>C ENSP00000467240.2:p.Gly381Ala
ENST00000589152.5:n.1840G>C
NM_000455.4:c.1142G>C , LRG_319t1:c.1142G>C NP_000446.1:p.Gly381Ala
XM_005259617.1:c.1137G>C XP_005259674.1:p.Trp379Cys
XM_011528209.1:c.915G>C XP_011526511.1:p.Trp305Cys
XM_005259617.3:c.1137G>C XP_005259674.1:p.Trp379Cys
XM_011528209.2:c.915G>C XP_011526511.1:p.Trp305Cys
XR_001753738.2:n.1948G>C
XR_001753740.2:n.1918G>C
NM_000455.5:c.1142G>C MANE Select NP_000446.1:p.Gly381Ala