Canonical Allele Identifier: CA022521

Gene: STK11

Linked Data

• ClinVar Variation Id: 141852
• ClinVar RCV Id: RCV000130536 ; RCV000705839
• dbSNP Id: rs587782059
• gnomAD v4: 19-1226583-C-T
• MyVariant Identifiers: chr19:g.1226582C>T (hg19) ; chr19:g.1226583C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226583C>T , CM000681.2:g.1226583C>T	GRCh38
NC_000019.9:g.1226582C>T , CM000681.1:g.1226582C>T	GRCh37
NC_000019.8:g.1177582C>T	NCBI36
NG_007460.2:g.42177C>T , LRG_319:g.42177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2839C>T	ENSP00000490268.2:n.*2839C>T
ENST00000585748.3:c.866C>T	ENSP00000477641.2:p.Pro289Leu
ENST00000585851.2:c.1064C>T	ENSP00000467912.2:p.Pro355Leu
ENST00000326873.12:c.1238C>T MANE Select	ENSP00000324856.6:p.Pro413Leu
ENST00000326873.11:c.1238C>T	ENSP00000324856.6:p.Pro413Leu
ENST00000585465.2:n.2971C>T
ENST00000586243.5:c.1237C>T	ENSP00000467240.2:p.Leu413=
ENST00000589152.5:n.1936C>T
NM_000455.4:c.1238C>T , LRG_319t1:c.1238C>T	NP_000446.1:p.Pro413Leu
XM_005259617.1:c.1233C>T	XP_005259674.1:p.Pro411=
XM_011528209.1:c.1011C>T	XP_011526511.1:p.Pro337=
XM_005259617.3:c.1233C>T	XP_005259674.1:p.Pro411=
XM_011528209.2:c.1011C>T	XP_011526511.1:p.Pro337=
XR_001753738.2:n.2044C>T
XR_001753740.2:n.2014C>T
NM_000455.5:c.1238C>T MANE Select	NP_000446.1:p.Pro413Leu