Canonical Allele Identifier: CA045909
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 484992
dbSNP Id: rs764876761
gnomAD v2: 19-1226547-C-T
gnomAD v4: 19-1226548-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226548C>T , CM000681.2:g.1226548C>T GRCh38
NC_000019.9:g.1226547C>T , CM000681.1:g.1226547C>T GRCh37
NC_000019.8:g.1177547C>T NCBI36
NG_007460.2:g.42142C>T , LRG_319:g.42142C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2804C>T ENSP00000490268.2:n.*2804C>T
ENST00000585748.3:c.831C>T ENSP00000477641.2:p.Ser277=
ENST00000585851.2:c.1029C>T ENSP00000467912.2:p.Ser343=
ENST00000326873.12:c.1203C>T MANE Select ENSP00000324856.6:p.Ser401=
ENST00000326873.11:c.1203C>T ENSP00000324856.6:p.Ser401=
ENST00000585465.2:n.2936C>T
ENST00000586243.5:c.1203C>T ENSP00000467240.2:p.Ser401=
ENST00000589152.5:n.1901C>T
NM_000455.4:c.1203C>T , LRG_319t1:c.1203C>T NP_000446.1:p.Ser401=
XM_005259617.1:c.1198C>T XP_005259674.1:p.His400Tyr
XM_011528209.1:c.976C>T XP_011526511.1:p.His326Tyr
XM_005259617.3:c.1198C>T XP_005259674.1:p.His400Tyr
XM_011528209.2:c.976C>T XP_011526511.1:p.His326Tyr
XR_001753738.2:n.2009C>T
XR_001753740.2:n.1979C>T
NM_000455.5:c.1203C>T MANE Select NP_000446.1:p.Ser401=