Canonical Allele Identifier: CA402954029
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 657657
ClinVar RCV Id: RCV000814312
dbSNP Id: rs878853986
gnomAD v4: 19-1226598-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226598G>A , CM000681.2:g.1226598G>A GRCh38
NC_000019.9:g.1226597G>A , CM000681.1:g.1226597G>A GRCh37
NC_000019.8:g.1177597G>A NCBI36
NG_007460.2:g.42192G>A , LRG_319:g.42192G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2854G>A ENSP00000490268.2:n.*2854G>A
ENST00000585748.3:c.881G>A ENSP00000477641.2:p.Cys294Tyr
ENST00000585851.2:c.1079G>A ENSP00000467912.2:p.Cys360Tyr
ENST00000326873.12:c.1253G>A MANE Select ENSP00000324856.6:p.Cys418Tyr
ENST00000326873.11:c.1253G>A ENSP00000324856.6:p.Cys418Tyr
ENST00000585465.2:n.2986G>A
ENST00000586243.5:c.1252G>A ENSP00000467240.2:p.Ala418Thr
ENST00000589152.5:n.1951G>A
NM_000455.4:c.1253G>A , LRG_319t1:c.1253G>A NP_000446.1:p.Cys418Tyr
XM_005259617.1:c.1248G>A XP_005259674.1:p.Leu416=
XM_011528209.1:c.1026G>A XP_011526511.1:p.Leu342=
XM_005259617.3:c.1248G>A XP_005259674.1:p.Leu416=
XM_011528209.2:c.1026G>A XP_011526511.1:p.Leu342=
XR_001753738.2:n.2059G>A
XR_001753740.2:n.2029G>A
NM_000455.5:c.1253G>A MANE Select NP_000446.1:p.Cys418Tyr