Canonical Allele Identifier: CA402951309

Gene: STK11

Linked Data

• ClinVar Variation Id: 428783
• ClinVar RCV Id: RCV000492320 ; RCV003105924 ; RCV003507284
• dbSNP Id: rs376280361
• gnomAD v4: 19-1221997-G-C
• MyVariant Identifiers: chr19:g.1221996G>C (hg19) ; chr19:g.1221997G>C (hg38)
• PubMed: PMID:9809980 ; PMID:12552571 ; PMID:16287113 ; PMID:19892943

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1221997G>C , CM000681.2:g.1221997G>C	GRCh38
NC_000019.9:g.1221996G>C , CM000681.1:g.1221996G>C	GRCh37
NC_000019.8:g.1172996G>C	NCBI36
NG_007460.2:g.37591G>C , LRG_319:g.37591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.911G>C	ENSP00000490268.2:p.Arg304Pro
ENST00000585748.3:c.539G>C	ENSP00000477641.2:p.Arg180Pro
ENST00000585851.2:c.737G>C	ENSP00000467912.2:p.Arg246Pro
ENST00000326873.12:c.911G>C MANE Select	ENSP00000324856.6:p.Arg304Pro
ENST00000652231.1:c.911G>C	ENSP00000498804.1:p.Arg304Pro
ENST00000326873.11:c.911G>C	ENSP00000324856.6:p.Arg304Pro
ENST00000586243.5:c.911G>C	ENSP00000467240.2:p.Arg304Pro
ENST00000589152.5:n.1609G>C
ENST00000591133.2:n.882G>C
NM_000455.4:c.911G>C , LRG_319t1:c.911G>C	NP_000446.1:p.Arg304Pro
XM_005259617.1:c.911G>C	XP_005259674.1:p.Arg304Pro
XM_005259618.3:c.911G>C	XP_005259675.1:p.Arg304Pro
XM_011528209.1:c.689G>C	XP_011526511.1:p.Arg230Pro
XR_936204.1:n.1687G>C
XM_005259617.3:c.911G>C	XP_005259674.1:p.Arg304Pro
XM_011528209.2:c.689G>C	XP_011526511.1:p.Arg230Pro
XR_001753738.2:n.1717G>C
XR_001753739.1:n.1717G>C
XR_001753740.2:n.1687G>C
NM_000455.5:c.911G>C MANE Select	NP_000446.1:p.Arg304Pro