Canonical Allele Identifier: CA048929
Gene: STK11 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.1221228G>A
GRCh37 chr19:g.1221227G>A
gnomAD v2:
19:1221227 G / A
gnomAD v4:
chr19-1221228-G-A
Joint Max Group AF 0.00000739 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
ClinVar RCV:
RCV000461110
RCV000583559
ClinVar Variation:
403769
dbSNP:
748112446
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1221228G>A , CM000681.2:g.1221228G>A GRCh38
NC_000019.9:g.1221227G>A , CM000681.1:g.1221227G>A GRCh37
NC_000019.8:g.1172227G>A NCBI36
NG_007460.2:g.36822G>A , LRG_319:g.36822G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.750G>A ENSP00000490268.2:p.Thr250=
ENST00000585748.3:c.378G>A ENSP00000477641.2:p.Thr126=
ENST00000585851.2:c.576G>A ENSP00000467912.2:p.Thr192=
ENST00000326873.12:c.750G>A MANE Select ENSP00000324856.6:p.Thr250=
ENST00000652231.1:c.750G>A ENSP00000498804.1:p.Thr250=
ENST00000326873.11:c.750G>A ENSP00000324856.6:p.Thr250=
ENST00000586243.5:c.750G>A ENSP00000467240.2:p.Thr250=
ENST00000586358.5:n.648G>A
ENST00000589152.5:n.840G>A
ENST00000591133.2:n.721G>A
NM_000455.4:c.750G>A , LRG_319t1:c.750G>A NP_000446.1:p.Thr250=
XM_005259617.1:c.750G>A XP_005259674.1:p.Thr250=
XM_005259618.3:c.750G>A XP_005259675.1:p.Thr250=
XM_011528209.1:c.528G>A XP_011526511.1:p.Thr176=
XR_936204.1:n.1375G>A
XM_005259617.3:c.750G>A XP_005259674.1:p.Thr250=
XM_011528209.2:c.528G>A XP_011526511.1:p.Thr176=
XR_001753738.2:n.1375G>A
XR_001753739.1:n.1375G>A
XR_001753740.2:n.1375G>A
NM_000455.5:c.750G>A MANE Select NP_000446.1:p.Thr250=
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