Canonical Allele Identifier: CA402951487
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1055666
ClinVar RCV Id: RCV001364375
dbSNP Id: rs758416485
gnomAD v2: 19-1223003-C-G
gnomAD v4: 19-1223004-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1223004C>G , CM000681.2:g.1223004C>G GRCh38
NC_000019.9:g.1223003C>G , CM000681.1:g.1223003C>G GRCh37
NC_000019.8:g.1174003C>G NCBI36
NG_007460.2:g.38598C>G , LRG_319:g.38598C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.940C>G ENSP00000490268.2:p.Pro314Ala
ENST00000585748.3:c.568C>G ENSP00000477641.2:p.Pro190Ala
ENST00000585851.2:c.766C>G ENSP00000467912.2:p.Pro256Ala
ENST00000326873.12:c.940C>G MANE Select ENSP00000324856.6:p.Pro314Ala
ENST00000652231.1:c.940C>G ENSP00000498804.1:p.Pro314Ala
ENST00000326873.11:c.940C>G ENSP00000324856.6:p.Pro314Ala
ENST00000586243.5:c.940C>G ENSP00000467240.2:p.Pro314Ala
ENST00000589152.5:n.1638C>G
ENST00000591133.2:n.911C>G
NM_000455.4:c.940C>G , LRG_319t1:c.940C>G NP_000446.1:p.Pro314Ala
XM_005259617.1:c.940C>G XP_005259674.1:p.Pro314Ala
XM_005259618.3:c.940C>G XP_005259675.1:p.Pro314Ala
XM_011528209.1:c.718C>G XP_011526511.1:p.Pro240Ala
XR_936204.1:n.1716C>G
XM_005259617.3:c.940C>G XP_005259674.1:p.Pro314Ala
XM_011528209.2:c.718C>G XP_011526511.1:p.Pro240Ala
XR_001753738.2:n.1746C>G
XR_001753739.1:n.1746C>G
XR_001753740.2:n.1716C>G
NM_000455.5:c.940C>G MANE Select NP_000446.1:p.Pro314Ala