Canonical Allele Identifier: CA022422
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 135915
ClinVar RCV Id: RCV000123054 RCV000128303 RCV000213032 RCV000586467 RCV001357027 RCV001798402
dbSNP Id: rs370207155
ExAC: 19:1226529 A / G
gnomAD v2: 19-1226529-A-G
gnomAD v3: 19-1226530-A-G
gnomAD v4: 19-1226530-A-G
MyVariant Identifiers: chr19:g.1226529A>G (hg19) chr19:g.1226530A>G (hg38)
PubMed: PMID:17026623 PMID:20722467
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226530A>G , CM000681.2:g.1226530A>G GRCh38
NC_000019.9:g.1226529A>G , CM000681.1:g.1226529A>G GRCh37
NC_000019.8:g.1177529A>G NCBI36
NG_007460.2:g.42124A>G , LRG_319:g.42124A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000585465.3:c.*2786A>G ENSP00000490268.2:n.*2786A>G
ENST00000585748.3:c.813A>G ENSP00000477641.2:p.Thr271=
ENST00000585851.2:c.1011A>G ENSP00000467912.2:p.Thr337=
ENST00000326873.12:c.1185A>G MANE Select ENSP00000324856.6:p.Thr395=
ENST00000326873.11:c.1185A>G ENSP00000324856.6:p.Thr395=
ENST00000585465.2:n.2918A>G
ENST00000586243.5:c.1185A>G ENSP00000467240.2:p.Thr395=
ENST00000589152.5:n.1883A>G
NM_000455.4:c.1185A>G , LRG_319t1:c.1185A>G NP_000446.1:p.Thr395=
XM_005259617.1:c.1180A>G XP_005259674.1:p.Arg394Gly
XM_011528209.1:c.958A>G XP_011526511.1:p.Arg320Gly
XM_005259617.3:c.1180A>G XP_005259674.1:p.Arg394Gly
XM_011528209.2:c.958A>G XP_011526511.1:p.Arg320Gly
XR_001753738.2:n.1991A>G
XR_001753740.2:n.1961A>G
NM_000455.5:c.1185A>G MANE Select NP_000446.1:p.Thr395=
Search 100 bp 5'
Search 100 bp 3'