Canonical Allele Identifier: CA022434

Gene: STK11

Linked Data

• ClinVar Variation Id: 141004
• ClinVar RCV Id: RCV003149889
• dbSNP Id: rs558040549
• ExAC: 19:1226534 C / T
• gnomAD v2: 19-1226534-C-T
• gnomAD v3: 19-1226535-C-T
• gnomAD v4: 19-1226535-C-T
• COSMIC: COSM1189751
• MyVariant Identifiers: chr19:g.1226534C>T (hg19) ; chr19:g.1226535C>T (hg38)
• PubMed: PMID:17711506 ; PMID:24468202

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226535C>T , CM000681.2:g.1226535C>T	GRCh38
NC_000019.9:g.1226534C>T , CM000681.1:g.1226534C>T	GRCh37
NC_000019.8:g.1177534C>T	NCBI36
NG_007460.2:g.42129C>T , LRG_319:g.42129C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.*2791C>T	ENSP00000490268.2:n.*2791C>T
ENST00000585748.3:c.818C>T	ENSP00000477641.2:p.Ala273Val
ENST00000585851.2:c.1016C>T	ENSP00000467912.2:p.Ala339Val
ENST00000326873.12:c.1190C>T MANE Select	ENSP00000324856.6:p.Ala397Val
ENST00000326873.11:c.1190C>T	ENSP00000324856.6:p.Ala397Val
ENST00000585465.2:n.2923C>T
ENST00000586243.5:c.1190C>T	ENSP00000467240.2:p.Ala397Val
ENST00000589152.5:n.1888C>T
NM_000455.4:c.1190C>T , LRG_319t1:c.1190C>T	NP_000446.1:p.Ala397Val
XM_005259617.1:c.1185C>T	XP_005259674.1:p.Gly395=
XM_011528209.1:c.963C>T	XP_011526511.1:p.Gly321=
XM_005259617.3:c.1185C>T	XP_005259674.1:p.Gly395=
XM_011528209.2:c.963C>T	XP_011526511.1:p.Gly321=
XR_001753738.2:n.1996C>T
XR_001753740.2:n.1966C>T
NM_000455.5:c.1190C>T MANE Select	NP_000446.1:p.Ala397Val