Canonical Allele Identifier: CA046029
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 480708
dbSNP Id: rs749463771
gnomAD v2: 19-1226566-G-A
gnomAD v4: 19-1226567-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226567G>A , CM000681.2:g.1226567G>A GRCh38
NC_000019.9:g.1226566G>A , CM000681.1:g.1226566G>A GRCh37
NC_000019.8:g.1177566G>A NCBI36
NG_007460.2:g.42161G>A , LRG_319:g.42161G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2823G>A ENSP00000490268.2:n.*2823G>A
ENST00000585748.3:c.850G>A ENSP00000477641.2:p.Gly284Ser
ENST00000585851.2:c.1048G>A ENSP00000467912.2:p.Gly350Ser
ENST00000326873.12:c.1222G>A MANE Select ENSP00000324856.6:p.Gly408Ser
ENST00000326873.11:c.1222G>A ENSP00000324856.6:p.Gly408Ser
ENST00000585465.2:n.2955G>A
ENST00000586243.5:c.1222-1G>A ENSP00000467240.2:n.1222-1G>A
ENST00000589152.5:n.1920G>A
NM_000455.4:c.1222G>A , LRG_319t1:c.1222G>A NP_000446.1:p.Gly408Ser
XM_005259617.1:c.1217G>A XP_005259674.1:p.Gly406Glu
XM_011528209.1:c.995G>A XP_011526511.1:p.Gly332Glu
XM_005259617.3:c.1217G>A XP_005259674.1:p.Gly406Glu
XM_011528209.2:c.995G>A XP_011526511.1:p.Gly332Glu
XR_001753738.2:n.2028G>A
XR_001753740.2:n.1998G>A
NM_000455.5:c.1222G>A MANE Select NP_000446.1:p.Gly408Ser