Canonical Allele Identifier: CA402954180

Gene: STK11

Linked Data

• ClinVar Variation Id: 458032
• ClinVar RCV Id: RCV000560595 ; RCV000564533 ; RCV003459198
• dbSNP Id: rs754853898
• gnomAD v4: 19-1226618-C-T
• MyVariant Identifiers: chr19:g.1226617C>T (hg19) ; chr19:g.1226618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226618C>T , CM000681.2:g.1226618C>T	GRCh38
NC_000019.9:g.1226617C>T , CM000681.1:g.1226617C>T	GRCh37
NC_000019.8:g.1177617C>T	NCBI36
NG_007460.2:g.42212C>T , LRG_319:g.42212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2874C>T	ENSP00000490268.2:n.*2874C>T
ENST00000585748.3:c.901C>T	ENSP00000477641.2:p.Arg301Cys
ENST00000585851.2:c.1099C>T	ENSP00000467912.2:p.Arg367Cys
ENST00000326873.12:c.1273C>T MANE Select	ENSP00000324856.6:p.Arg425Cys
ENST00000326873.11:c.1273C>T	ENSP00000324856.6:p.Arg425Cys
ENST00000585465.2:n.3006C>T
ENST00000586243.5:c.1270C>T	ENSP00000467240.2:p.Arg424Cys
ENST00000589152.5:n.1971C>T
NM_000455.4:c.1273C>T , LRG_319t1:c.1273C>T	NP_000446.1:p.Arg425Cys
XM_005259617.1:c.1268C>T	XP_005259674.1:p.Pro423Leu
XM_011528209.1:c.1046C>T	XP_011526511.1:p.Pro349Leu
XM_005259617.3:c.1268C>T	XP_005259674.1:p.Pro423Leu
XM_011528209.2:c.1046C>T	XP_011526511.1:p.Pro349Leu
XR_001753738.2:n.2079C>T
XR_001753740.2:n.2049C>T
NM_000455.5:c.1273C>T MANE Select	NP_000446.1:p.Arg425Cys