Canonical Allele Identifier: CA16603121
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 376711
dbSNP Id: rs1057520018
gnomAD v2: 19-1223123-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1223124T>C , CM000681.2:g.1223124T>C GRCh38
NC_000019.9:g.1223123T>C , CM000681.1:g.1223123T>C GRCh37
NC_000019.8:g.1174123T>C NCBI36
NG_007460.2:g.38718T>C , LRG_319:g.38718T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.1060T>C ENSP00000490268.2:p.Phe354Leu
ENST00000585748.3:c.688T>C ENSP00000477641.2:p.Phe230Leu
ENST00000585851.2:c.886T>C ENSP00000467912.2:p.Phe296Leu
ENST00000326873.12:c.1060T>C MANE Select ENSP00000324856.6:p.Phe354Leu
ENST00000652231.1:c.1060T>C ENSP00000498804.1:p.Phe354Leu
ENST00000326873.11:c.1060T>C ENSP00000324856.6:p.Phe354Leu
ENST00000586243.5:c.1060T>C ENSP00000467240.2:p.Phe354Leu
ENST00000589152.5:n.1758T>C
NM_000455.4:c.1060T>C , LRG_319t1:c.1060T>C NP_000446.1:p.Phe354Leu
XM_005259617.1:c.1060T>C XP_005259674.1:p.Phe354Leu
XM_005259618.3:c.1060T>C XP_005259675.1:p.Phe354Leu
XM_011528209.1:c.838T>C XP_011526511.1:p.Phe280Leu
XR_936204.1:n.1836T>C
XM_005259617.3:c.1060T>C XP_005259674.1:p.Phe354Leu
XM_011528209.2:c.838T>C XP_011526511.1:p.Phe280Leu
XR_001753738.2:n.1866T>C
XR_001753739.1:n.1866T>C
XR_001753740.2:n.1836T>C
NM_000455.5:c.1060T>C MANE Select NP_000446.1:p.Phe354Leu