Canonical Allele Identifier: CA10581015

Gene: STK11

Linked Data

• ClinVar Variation Id: 229720
• ClinVar RCV Id: RCV000213831 ; RCV001318426
• dbSNP Id: rs876658160
• gnomAD v4: 19-1223088-G-C
• MyVariant Identifiers: chr19:g.1223087G>C (hg19) ; chr19:g.1223088G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223088G>C , CM000681.2:g.1223088G>C	GRCh38
NC_000019.9:g.1223087G>C , CM000681.1:g.1223087G>C	GRCh37
NC_000019.8:g.1174087G>C	NCBI36
NG_007460.2:g.38682G>C , LRG_319:g.38682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1024G>C	ENSP00000490268.2:p.Glu342Gln
ENST00000585748.3:c.652G>C	ENSP00000477641.2:p.Glu218Gln
ENST00000585851.2:c.850G>C	ENSP00000467912.2:p.Glu284Gln
ENST00000326873.12:c.1024G>C MANE Select	ENSP00000324856.6:p.Glu342Gln
ENST00000652231.1:c.1024G>C	ENSP00000498804.1:p.Glu342Gln
ENST00000326873.11:c.1024G>C	ENSP00000324856.6:p.Glu342Gln
ENST00000586243.5:c.1024G>C	ENSP00000467240.2:p.Glu342Gln
ENST00000589152.5:n.1722G>C
ENST00000591133.2:n.995G>C
NM_000455.4:c.1024G>C , LRG_319t1:c.1024G>C	NP_000446.1:p.Glu342Gln
XM_005259617.1:c.1024G>C	XP_005259674.1:p.Glu342Gln
XM_005259618.3:c.1024G>C	XP_005259675.1:p.Glu342Gln
XM_011528209.1:c.802G>C	XP_011526511.1:p.Glu268Gln
XR_936204.1:n.1800G>C
XM_005259617.3:c.1024G>C	XP_005259674.1:p.Glu342Gln
XM_011528209.2:c.802G>C	XP_011526511.1:p.Glu268Gln
XR_001753738.2:n.1830G>C
XR_001753739.1:n.1830G>C
XR_001753740.2:n.1800G>C
NM_000455.5:c.1024G>C MANE Select	NP_000446.1:p.Glu342Gln