Canonical Allele Identifier: CA402953238

Gene: STK11

Linked Data

• ClinVar Variation Id: 1728176
• ClinVar RCV Id: RCV002320808 ; RCV003507408
• dbSNP Id: rs199973552
• gnomAD v4: 19-1226475-C-G
• MyVariant Identifiers: chr19:g.1226474C>G (hg19) ; chr19:g.1226475C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226475C>G , CM000681.2:g.1226475C>G	GRCh38
NC_000019.9:g.1226474C>G , CM000681.1:g.1226474C>G	GRCh37
NC_000019.8:g.1177474C>G	NCBI36
NG_007460.2:g.42069C>G , LRG_319:g.42069C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2731C>G	ENSP00000490268.2:n.*2731C>G
ENST00000585748.3:c.758C>G	ENSP00000477641.2:p.Ala253Gly
ENST00000585851.2:c.956C>G	ENSP00000467912.2:p.Ala319Gly
ENST00000326873.12:c.1130C>G MANE Select	ENSP00000324856.6:p.Ala377Gly
ENST00000326873.11:c.1130C>G	ENSP00000324856.6:p.Ala377Gly
ENST00000585465.2:n.2863C>G
ENST00000586243.5:c.1130C>G	ENSP00000467240.2:p.Ala377Gly
ENST00000589152.5:n.1828C>G
NM_000455.4:c.1130C>G , LRG_319t1:c.1130C>G	NP_000446.1:p.Ala377Gly
XM_005259617.1:c.1125C>G	XP_005259674.1:p.Gly375=
XM_011528209.1:c.903C>G	XP_011526511.1:p.Gly301=
XM_005259617.3:c.1125C>G	XP_005259674.1:p.Gly375=
XM_011528209.2:c.903C>G	XP_011526511.1:p.Gly301=
XR_001753738.2:n.1936C>G
XR_001753740.2:n.1906C>G
NM_000455.5:c.1130C>G MANE Select	NP_000446.1:p.Ala377Gly