Canonical Allele Identifier: CA046619

Gene: STK11

Linked Data

• ClinVar Variation Id: 527816
• ClinVar RCV Id: RCV000632809 ; RCV001015109
• dbSNP Id: rs760588289
• ExAC: 19:1206934 C / G
• gnomAD v2: 19-1206934-C-G
• gnomAD v4: 19-1206935-C-G
• MyVariant Identifiers: chr19:g.1206934C>G (hg19) ; chr19:g.1206935C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1206935C>G , CM000681.2:g.1206935C>G	GRCh38
NC_000019.9:g.1206934C>G , CM000681.1:g.1206934C>G	GRCh37
NC_000019.8:g.1157934C>G	NCBI36
NG_007460.2:g.22529C>G , LRG_319:g.22529C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.22C>G	ENSP00000490268.2:p.Gln8Glu
ENST00000585748.3:c.-82-11482C>G	ENSP00000477641.2:n.-82-11482C>G
ENST00000585851.2:c.22C>G	ENSP00000467912.2:p.Gln8Glu
ENST00000326873.12:c.22C>G MANE Select	ENSP00000324856.6:p.Gln8Glu
ENST00000652231.1:c.22C>G	ENSP00000498804.1:p.Gln8Glu
ENST00000326873.11:c.22C>G	ENSP00000324856.6:p.Gln8Glu
ENST00000585748.2:c.-82-11482C>G	ENSP00000477641.1:n.-82-11482C>G
ENST00000585851.1:c.22C>G	ENSP00000467912.1:p.Gln8Glu
ENST00000586243.5:c.22C>G	ENSP00000467240.2:p.Gln8Glu
ENST00000589152.5:n.112C>G
ENST00000593219.5:c.22C>G	ENSP00000466610.1:p.Gln8Glu
NM_000455.4:c.22C>G , LRG_319t1:c.22C>G	NP_000446.1:p.Gln8Glu
XM_005259617.1:c.22C>G	XP_005259674.1:p.Gln8Glu
XM_005259618.3:c.22C>G	XP_005259675.1:p.Gln8Glu
XM_011528209.1:c.-332C>G	XP_011526511.1:n.-332C>G
XR_936204.1:n.647C>G
XM_005259617.3:c.22C>G	XP_005259674.1:p.Gln8Glu
XM_011528209.2:c.-332C>G	XP_011526511.1:n.-332C>G
XR_001753738.2:n.647C>G
XR_001753739.1:n.647C>G
XR_001753740.2:n.647C>G
NM_000455.5:c.22C>G MANE Select	NP_000446.1:p.Gln8Glu