Canonical Allele Identifier: CA402953570
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 818507
ClinVar RCV Id: RCV001010165
dbSNP Id: rs768780695
gnomAD v4: 19-1226525-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226525G>T , CM000681.2:g.1226525G>T GRCh38
NC_000019.9:g.1226524G>T , CM000681.1:g.1226524G>T GRCh37
NC_000019.8:g.1177524G>T NCBI36
NG_007460.2:g.42119G>T , LRG_319:g.42119G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2781G>T ENSP00000490268.2:n.*2781G>T
ENST00000585748.3:c.808G>T ENSP00000477641.2:p.Gly270Cys
ENST00000585851.2:c.1006G>T ENSP00000467912.2:p.Gly336Cys
ENST00000326873.12:c.1180G>T MANE Select ENSP00000324856.6:p.Gly394Cys
ENST00000326873.11:c.1180G>T ENSP00000324856.6:p.Gly394Cys
ENST00000585465.2:n.2913G>T
ENST00000586243.5:c.1180G>T ENSP00000467240.2:p.Gly394Cys
ENST00000589152.5:n.1878G>T
NM_000455.4:c.1180G>T , LRG_319t1:c.1180G>T NP_000446.1:p.Gly394Cys
XM_005259617.1:c.1175G>T XP_005259674.1:p.Arg392Leu
XM_011528209.1:c.953G>T XP_011526511.1:p.Arg318Leu
XM_005259617.3:c.1175G>T XP_005259674.1:p.Arg392Leu
XM_011528209.2:c.953G>T XP_011526511.1:p.Arg318Leu
XR_001753738.2:n.1986G>T
XR_001753740.2:n.1956G>T
NM_000455.5:c.1180G>T MANE Select NP_000446.1:p.Gly394Cys