Canonical Allele Identifier: CA049785

Gene: STK11

Linked Data

• ClinVar Variation Id: 458074
• ClinVar RCV Id: RCV000539597 ; RCV001019381 ; RCV001552945 ; RCV002282206
• dbSNP Id: rs751709130
• ExAC: 19:1223010 C / G
• gnomAD v2: 19-1223010-C-G
• gnomAD v3: 19-1223011-C-G
• gnomAD v4: 19-1223011-C-G
• MyVariant Identifiers: chr19:g.1223010C>G (hg19) ; chr19:g.1223011C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223011C>G , CM000681.2:g.1223011C>G	GRCh38
NC_000019.9:g.1223010C>G , CM000681.1:g.1223010C>G	GRCh37
NC_000019.8:g.1174010C>G	NCBI36
NG_007460.2:g.38605C>G , LRG_319:g.38605C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.947C>G	ENSP00000490268.2:p.Ala316Gly
ENST00000585748.3:c.575C>G	ENSP00000477641.2:p.Ala192Gly
ENST00000585851.2:c.773C>G	ENSP00000467912.2:p.Ala258Gly
ENST00000326873.12:c.947C>G MANE Select	ENSP00000324856.6:p.Ala316Gly
ENST00000652231.1:c.947C>G	ENSP00000498804.1:p.Ala316Gly
ENST00000326873.11:c.947C>G	ENSP00000324856.6:p.Ala316Gly
ENST00000586243.5:c.947C>G	ENSP00000467240.2:p.Ala316Gly
ENST00000589152.5:n.1645C>G
ENST00000591133.2:n.918C>G
NM_000455.4:c.947C>G , LRG_319t1:c.947C>G	NP_000446.1:p.Ala316Gly
XM_005259617.1:c.947C>G	XP_005259674.1:p.Ala316Gly
XM_005259618.3:c.947C>G	XP_005259675.1:p.Ala316Gly
XM_011528209.1:c.725C>G	XP_011526511.1:p.Ala242Gly
XR_936204.1:n.1723C>G
XM_005259617.3:c.947C>G	XP_005259674.1:p.Ala316Gly
XM_011528209.2:c.725C>G	XP_011526511.1:p.Ala242Gly
XR_001753738.2:n.1753C>G
XR_001753739.1:n.1753C>G
XR_001753740.2:n.1723C>G
NM_000455.5:c.947C>G MANE Select	NP_000446.1:p.Ala316Gly