Canonical Allele Identifier: CA402953817

Gene: STK11

Linked Data

• ClinVar Variation Id: 629444
• ClinVar RCV Id: RCV000774151 ; RCV001873138
• dbSNP Id: rs1568717266
• gnomAD v4: 19-1226566-G-C
• MyVariant Identifiers: chr19:g.1226565G>C (hg19) ; chr19:g.1226566G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226566G>C , CM000681.2:g.1226566G>C	GRCh38
NC_000019.9:g.1226565G>C , CM000681.1:g.1226565G>C	GRCh37
NC_000019.8:g.1177565G>C	NCBI36
NG_007460.2:g.42160G>C , LRG_319:g.42160G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2822G>C	ENSP00000490268.2:n.*2822G>C
ENST00000585748.3:c.849G>C	ENSP00000477641.2:p.Glu283Asp
ENST00000585851.2:c.1047G>C	ENSP00000467912.2:p.Glu349Asp
ENST00000326873.12:c.1221G>C MANE Select	ENSP00000324856.6:p.Glu407Asp
ENST00000326873.11:c.1221G>C	ENSP00000324856.6:p.Glu407Asp
ENST00000585465.2:n.2954G>C
ENST00000586243.5:c.1221G>C	ENSP00000467240.2:p.Glu407Asp
ENST00000589152.5:n.1919G>C
NM_000455.4:c.1221G>C , LRG_319t1:c.1221G>C	NP_000446.1:p.Glu407Asp
XM_005259617.1:c.1216G>C	XP_005259674.1:p.Gly406Arg
XM_011528209.1:c.994G>C	XP_011526511.1:p.Gly332Arg
XM_005259617.3:c.1216G>C	XP_005259674.1:p.Gly406Arg
XM_011528209.2:c.994G>C	XP_011526511.1:p.Gly332Arg
XR_001753738.2:n.2027G>C
XR_001753740.2:n.1997G>C
NM_000455.5:c.1221G>C MANE Select	NP_000446.1:p.Glu407Asp