Canonical Allele Identifier: CA022477

Gene: STK11

Linked Data

• ClinVar Variation Id: 185035
• ClinVar RCV Id: RCV000164388 ; RCV001054751 ; RCV003467295
• dbSNP Id: rs376718324
• gnomAD v3: 19-1226558-A-T
• gnomAD v4: 19-1226558-A-T
• MyVariant Identifiers: chr19:g.1226557A>T (hg19) ; chr19:g.1226558A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226558A>T , CM000681.2:g.1226558A>T	GRCh38
NC_000019.9:g.1226557A>T , CM000681.1:g.1226557A>T	GRCh37
NC_000019.8:g.1177557A>T	NCBI36
NG_007460.2:g.42152A>T , LRG_319:g.42152A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2814A>T	ENSP00000490268.2:n.*2814A>T
ENST00000585748.3:c.841A>T	ENSP00000477641.2:p.Arg281Trp
ENST00000585851.2:c.1039A>T	ENSP00000467912.2:p.Arg347Trp
ENST00000326873.12:c.1213A>T MANE Select	ENSP00000324856.6:p.Arg405Trp
ENST00000326873.11:c.1213A>T	ENSP00000324856.6:p.Arg405Trp
ENST00000585465.2:n.2946A>T
ENST00000586243.5:c.1213A>T	ENSP00000467240.2:p.Arg405Trp
ENST00000589152.5:n.1911A>T
NM_000455.4:c.1213A>T , LRG_319t1:c.1213A>T	NP_000446.1:p.Arg405Trp
XM_005259617.1:c.1208A>T	XP_005259674.1:p.Gln403Leu
XM_011528209.1:c.986A>T	XP_011526511.1:p.Gln329Leu
XM_005259617.3:c.1208A>T	XP_005259674.1:p.Gln403Leu
XM_011528209.2:c.986A>T	XP_011526511.1:p.Gln329Leu
XR_001753738.2:n.2019A>T
XR_001753740.2:n.1989A>T
NM_000455.5:c.1213A>T MANE Select	NP_000446.1:p.Arg405Trp