Canonical Allele Identifier: CA022547
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 135918
dbSNP Id: rs587780715
gnomAD v2: 19-1226598-C-G
gnomAD v3: 19-1226599-C-G
gnomAD v4: 19-1226599-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226599C>G , CM000681.2:g.1226599C>G GRCh38
NC_000019.9:g.1226598C>G , CM000681.1:g.1226598C>G GRCh37
NC_000019.8:g.1177598C>G NCBI36
NG_007460.2:g.42193C>G , LRG_319:g.42193C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2855C>G ENSP00000490268.2:n.*2855C>G
ENST00000585748.3:c.882C>G ENSP00000477641.2:p.Cys294Trp
ENST00000585851.2:c.1080C>G ENSP00000467912.2:p.Cys360Trp
ENST00000326873.12:c.1254C>G MANE Select ENSP00000324856.6:p.Cys418Trp
ENST00000326873.11:c.1254C>G ENSP00000324856.6:p.Cys418Trp
ENST00000585465.2:n.2987C>G
ENST00000586243.5:c.1253C>G ENSP00000467240.2:p.Ala418Gly
ENST00000589152.5:n.1952C>G
NM_000455.4:c.1254C>G , LRG_319t1:c.1254C>G NP_000446.1:p.Cys418Trp
XM_005259617.1:c.1249C>G XP_005259674.1:p.Leu417Val
XM_011528209.1:c.1027C>G XP_011526511.1:p.Leu343Val
XM_005259617.3:c.1249C>G XP_005259674.1:p.Leu417Val
XM_011528209.2:c.1027C>G XP_011526511.1:p.Leu343Val
XR_001753738.2:n.2060C>G
XR_001753740.2:n.2030C>G
NM_000455.5:c.1254C>G MANE Select NP_000446.1:p.Cys418Trp