Canonical Allele Identifier: CA10583793
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 237792
dbSNP Id: rs878853985
gnomAD v2: 19-1226589-C-T
gnomAD v4: 19-1226590-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226590C>T , CM000681.2:g.1226590C>T GRCh38
NC_000019.9:g.1226589C>T , CM000681.1:g.1226589C>T GRCh37
NC_000019.8:g.1177589C>T NCBI36
NG_007460.2:g.42184C>T , LRG_319:g.42184C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2846C>T ENSP00000490268.2:n.*2846C>T
ENST00000585748.3:c.873C>T ENSP00000477641.2:p.Arg291=
ENST00000585851.2:c.1071C>T ENSP00000467912.2:p.Arg357=
ENST00000326873.12:c.1245C>T MANE Select ENSP00000324856.6:p.Arg415=
ENST00000326873.11:c.1245C>T ENSP00000324856.6:p.Arg415=
ENST00000585465.2:n.2978C>T
ENST00000586243.5:c.1244C>T ENSP00000467240.2:p.Ala415Val
ENST00000589152.5:n.1943C>T
NM_000455.4:c.1245C>T , LRG_319t1:c.1245C>T NP_000446.1:p.Arg415=
XM_005259617.1:c.1240C>T XP_005259674.1:p.Gln414Ter
XM_011528209.1:c.1018C>T XP_011526511.1:p.Gln340Ter
XM_005259617.3:c.1240C>T XP_005259674.1:p.Gln414Ter
XM_011528209.2:c.1018C>T XP_011526511.1:p.Gln340Ter
XR_001753738.2:n.2051C>T
XR_001753740.2:n.2021C>T
NM_000455.5:c.1245C>T MANE Select NP_000446.1:p.Arg415=