Canonical Allele Identifier: CA402954115
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2774547
ClinVar RCV Id: RCV003585838
gnomAD v4: 19-1226610-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226610G>T , CM000681.2:g.1226610G>T GRCh38
NC_000019.9:g.1226609G>T , CM000681.1:g.1226609G>T GRCh37
NC_000019.8:g.1177609G>T NCBI36
NG_007460.2:g.42204G>T , LRG_319:g.42204G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2866G>T ENSP00000490268.2:n.*2866G>T
ENST00000585748.3:c.893G>T ENSP00000477641.2:p.Ser298Ile
ENST00000585851.2:c.1091G>T ENSP00000467912.2:p.Ser364Ile
ENST00000326873.12:c.1265G>T MANE Select ENSP00000324856.6:p.Ser422Ile
ENST00000326873.11:c.1265G>T ENSP00000324856.6:p.Ser422Ile
ENST00000585465.2:n.2998G>T
ENST00000586243.5:c.1262G>T ENSP00000467240.2:p.Ser421Ile
ENST00000589152.5:n.1963G>T
NM_000455.4:c.1265G>T , LRG_319t1:c.1265G>T NP_000446.1:p.Ser422Ile
XM_005259617.1:c.1260G>T XP_005259674.1:p.Gln420His
XM_011528209.1:c.1038G>T XP_011526511.1:p.Gln346His
XM_005259617.3:c.1260G>T XP_005259674.1:p.Gln420His
XM_011528209.2:c.1038G>T XP_011526511.1:p.Gln346His
XR_001753738.2:n.2071G>T
XR_001753740.2:n.2041G>T
NM_000455.5:c.1265G>T MANE Select NP_000446.1:p.Ser422Ile