Canonical Allele Identifier: CA402953935
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 695193
ClinVar RCV Id: RCV000860553
dbSNP Id: rs786201330
gnomAD v4: 19-1226584-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226584T>C , CM000681.2:g.1226584T>C GRCh38
NC_000019.9:g.1226583T>C , CM000681.1:g.1226583T>C GRCh37
NC_000019.8:g.1177583T>C NCBI36
NG_007460.2:g.42178T>C , LRG_319:g.42178T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2840T>C ENSP00000490268.2:n.*2840T>C
ENST00000585748.3:c.867T>C ENSP00000477641.2:p.Pro289=
ENST00000585851.2:c.1065T>C ENSP00000467912.2:p.Pro355=
ENST00000326873.12:c.1239T>C MANE Select ENSP00000324856.6:p.Pro413=
ENST00000326873.11:c.1239T>C ENSP00000324856.6:p.Pro413=
ENST00000585465.2:n.2972T>C
ENST00000586243.5:c.1238T>C ENSP00000467240.2:p.Leu413Pro
ENST00000589152.5:n.1937T>C
NM_000455.4:c.1239T>C , LRG_319t1:c.1239T>C NP_000446.1:p.Pro413=
XM_005259617.1:c.1234T>C XP_005259674.1:p.Cys412Arg
XM_011528209.1:c.1012T>C XP_011526511.1:p.Cys338Arg
XM_005259617.3:c.1234T>C XP_005259674.1:p.Cys412Arg
XM_011528209.2:c.1012T>C XP_011526511.1:p.Cys338Arg
XR_001753738.2:n.2045T>C
XR_001753740.2:n.2015T>C
NM_000455.5:c.1239T>C MANE Select NP_000446.1:p.Pro413=