Canonical Allele Identifier: CA022442

Gene: STK11

Linked Data

• ClinVar Variation Id: 184646
• ClinVar RCV Id: RCV000163934 ; RCV000234273 ; RCV000486365 ; RCV000657114 ; RCV001262270
• dbSNP Id: rs768058962
• gnomAD v2: 19-1226537-C-T
• gnomAD v3: 19-1226538-C-T
• gnomAD v4: 19-1226538-C-T
• COSMIC: COSM4602605 ; COSM4602606
• MyVariant Identifiers: chr19:g.1226537C>T (hg19) ; chr19:g.1226538C>T (hg38)
• PubMed: PMID:25980754

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226538C>T , CM000681.2:g.1226538C>T	GRCh38
NC_000019.9:g.1226537C>T , CM000681.1:g.1226537C>T	GRCh37
NC_000019.8:g.1177537C>T	NCBI36
NG_007460.2:g.42132C>T , LRG_319:g.42132C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.*2794C>T	ENSP00000490268.2:n.*2794C>T
ENST00000585748.3:c.821C>T	ENSP00000477641.2:p.Ala274Val
ENST00000585851.2:c.1019C>T	ENSP00000467912.2:p.Ala340Val
ENST00000326873.12:c.1193C>T MANE Select	ENSP00000324856.6:p.Ala398Val
ENST00000326873.11:c.1193C>T	ENSP00000324856.6:p.Ala398Val
ENST00000585465.2:n.2926C>T
ENST00000586243.5:c.1193C>T	ENSP00000467240.2:p.Ala398Val
ENST00000589152.5:n.1891C>T
NM_000455.4:c.1193C>T , LRG_319t1:c.1193C>T	NP_000446.1:p.Ala398Val
XM_005259617.1:c.1188C>T	XP_005259674.1:p.Gly396=
XM_011528209.1:c.966C>T	XP_011526511.1:p.Gly322=
XM_005259617.3:c.1188C>T	XP_005259674.1:p.Gly396=
XM_011528209.2:c.966C>T	XP_011526511.1:p.Gly322=
XR_001753738.2:n.1999C>T
XR_001753740.2:n.1969C>T
NM_000455.5:c.1193C>T MANE Select	NP_000446.1:p.Ala398Val