Canonical Allele Identifier: CA045509
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 237789
dbSNP Id: rs768870802
gnomAD v2: 19-1226473-G-C
gnomAD v4: 19-1226474-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226474G>C , CM000681.2:g.1226474G>C GRCh38
NC_000019.9:g.1226473G>C , CM000681.1:g.1226473G>C GRCh37
NC_000019.8:g.1177473G>C NCBI36
NG_007460.2:g.42068G>C , LRG_319:g.42068G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2730G>C ENSP00000490268.2:n.*2730G>C
ENST00000585748.3:c.757G>C ENSP00000477641.2:p.Ala253Pro
ENST00000585851.2:c.955G>C ENSP00000467912.2:p.Ala319Pro
ENST00000326873.12:c.1129G>C MANE Select ENSP00000324856.6:p.Ala377Pro
ENST00000326873.11:c.1129G>C ENSP00000324856.6:p.Ala377Pro
ENST00000585465.2:n.2862G>C
ENST00000586243.5:c.1129G>C ENSP00000467240.2:p.Ala377Pro
ENST00000589152.5:n.1827G>C
NM_000455.4:c.1129G>C , LRG_319t1:c.1129G>C NP_000446.1:p.Ala377Pro
XM_005259617.1:c.1124G>C XP_005259674.1:p.Gly375Ala
XM_011528209.1:c.902G>C XP_011526511.1:p.Gly301Ala
XM_005259617.3:c.1124G>C XP_005259674.1:p.Gly375Ala
XM_011528209.2:c.902G>C XP_011526511.1:p.Gly301Ala
XR_001753738.2:n.1935G>C
XR_001753740.2:n.1905G>C
NM_000455.5:c.1129G>C MANE Select NP_000446.1:p.Ala377Pro