Canonical Allele Identifier: CA504708526
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1921723
ClinVar RCV Id: RCV002613248
dbSNP Id: rs774759899
gnomAD v3: 19-1226536-G-T
gnomAD v4: 19-1226536-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226536G>T , CM000681.2:g.1226536G>T GRCh38
NC_000019.9:g.1226535G>T , CM000681.1:g.1226535G>T GRCh37
NC_000019.8:g.1177535G>T NCBI36
NG_007460.2:g.42130G>T , LRG_319:g.42130G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000585465.3:c.*2792G>T ENSP00000490268.2:n.*2792G>T
ENST00000585748.3:c.819G>T ENSP00000477641.2:p.Ala273=
ENST00000585851.2:c.1017G>T ENSP00000467912.2:p.Ala339=
ENST00000326873.12:c.1191G>T MANE Select ENSP00000324856.6:p.Ala397=
ENST00000326873.11:c.1191G>T ENSP00000324856.6:p.Ala397=
ENST00000585465.2:n.2924G>T
ENST00000586243.5:c.1191G>T ENSP00000467240.2:p.Ala397=
ENST00000589152.5:n.1889G>T
NM_000455.4:c.1191G>T , LRG_319t1:c.1191G>T NP_000446.1:p.Ala397=
XM_005259617.1:c.1186G>T XP_005259674.1:p.Gly396Cys
XM_011528209.1:c.964G>T XP_011526511.1:p.Gly322Cys
XM_005259617.3:c.1186G>T XP_005259674.1:p.Gly396Cys
XM_011528209.2:c.964G>T XP_011526511.1:p.Gly322Cys
XR_001753738.2:n.1997G>T
XR_001753740.2:n.1967G>T
NM_000455.5:c.1191G>T MANE Select NP_000446.1:p.Ala397=