Canonical Allele Identifier: CA304033618

Gene: STK11

Linked Data

• ClinVar Variation Id: 3072004
• ClinVar RCV Id: RCV004012034
• dbSNP Id: rs747545317
• MyVariant Identifiers: chr19:g.1226543T>C (hg19) ; chr19:g.1226544T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226544T>C , CM000681.2:g.1226544T>C	GRCh38
NC_000019.9:g.1226543T>C , CM000681.1:g.1226543T>C	GRCh37
NC_000019.8:g.1177543T>C	NCBI36
NG_007460.2:g.42138T>C , LRG_319:g.42138T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2800T>C	ENSP00000490268.2:n.*2800T>C
ENST00000585748.3:c.827T>C	ENSP00000477641.2:p.Leu276Pro
ENST00000585851.2:c.1025T>C	ENSP00000467912.2:p.Leu342Pro
ENST00000326873.12:c.1199T>C MANE Select	ENSP00000324856.6:p.Leu400Pro
ENST00000326873.11:c.1199T>C	ENSP00000324856.6:p.Leu400Pro
ENST00000585465.2:n.2932T>C
ENST00000586243.5:c.1199T>C	ENSP00000467240.2:p.Leu400Pro
ENST00000589152.5:n.1897T>C
NM_000455.4:c.1199T>C , LRG_319t1:c.1199T>C	NP_000446.1:p.Leu400Pro
XM_005259617.1:c.1194T>C	XP_005259674.1:p.Ala398=
XM_011528209.1:c.972T>C	XP_011526511.1:p.Ala324=
XM_005259617.3:c.1194T>C	XP_005259674.1:p.Ala398=
XM_011528209.2:c.972T>C	XP_011526511.1:p.Ala324=
XR_001753738.2:n.2005T>C
XR_001753740.2:n.1975T>C
NM_000455.5:c.1199T>C MANE Select	NP_000446.1:p.Leu400Pro