Canonical Allele Identifier: CA023257

Gene: STK11

Linked Data

• ClinVar Variation Id: 141795
• ClinVar RCV Id: RCV000130447 ; RCV001849934
• dbSNP Id: rs587782018
• gnomAD v4: 19-1220718-G-T
• COSMIC: COSM51523 ; COSM6083765
• MyVariant Identifiers: chr19:g.1220717G>T (hg19) ; chr19:g.1220718G>T (hg38)
• PubMed: PMID:11389158 ; PMID:12865922

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1220718G>T , CM000681.2:g.1220718G>T	GRCh38
NC_000019.9:g.1220717G>T , CM000681.1:g.1220717G>T	GRCh37
NC_000019.8:g.1171717G>T	NCBI36
NG_007460.2:g.36312G>T , LRG_319:g.36312G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.734+1G>T	ENSP00000490268.2:n.734+1G>T
ENST00000585748.3:c.362+1G>T	ENSP00000477641.2:n.362+1G>T
ENST00000585851.2:c.560+1G>T	ENSP00000467912.2:n.560+1G>T
ENST00000326873.12:c.734+1G>T MANE Select	ENSP00000324856.6:n.734+1G>T
ENST00000652231.1:c.734+1G>T	ENSP00000498804.1:n.734+1G>T
ENST00000326873.11:c.734+1G>T	ENSP00000324856.6:n.734+1G>T
ENST00000586243.5:c.734+1G>T	ENSP00000467240.2:n.734+1G>T
ENST00000586358.5:n.632+1G>T
ENST00000589152.5:n.824+1G>T
ENST00000591133.2:n.705+1G>T
NM_000455.4:c.734+1G>T , LRG_319t1:c.734+1G>T	NP_000446.1:n.734+1G>T
XM_005259617.1:c.734+1G>T	XP_005259674.1:n.734+1G>T
XM_005259618.3:c.734+1G>T	XP_005259675.1:n.734+1G>T
XM_011528209.1:c.512+1G>T	XP_011526511.1:n.512+1G>T
XR_936204.1:n.1359+1G>T
XM_005259617.3:c.734+1G>T	XP_005259674.1:n.734+1G>T
XM_011528209.2:c.512+1G>T	XP_011526511.1:n.512+1G>T
XR_001753738.2:n.1359+1G>T
XR_001753739.1:n.1359+1G>T
XR_001753740.2:n.1359+1G>T
NM_000455.5:c.734+1G>T MANE Select	NP_000446.1:n.734+1G>T