Canonical Allele Identifier: CA022588

Gene: STK11

Linked Data

• ClinVar Variation Id: 142743
• ClinVar RCV Id: RCV000132118 ; RCV000410170 ; RCV000485540 ; RCV003462033
• dbSNP Id: rs587782687
• gnomAD v3: 19-1226621-C-G
• gnomAD v4: 19-1226621-C-G
• MyVariant Identifiers: chr19:g.1226620C>G (hg19) ; chr19:g.1226621C>G (hg38)
• PubMed: PMID:23399955 ; PMID:26928227

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226621C>G , CM000681.2:g.1226621C>G	GRCh38
NC_000019.9:g.1226620C>G , CM000681.1:g.1226620C>G	GRCh37
NC_000019.8:g.1177620C>G	NCBI36
NG_007460.2:g.42215C>G , LRG_319:g.42215C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2877C>G	ENSP00000490268.2:n.*2877C>G
ENST00000585748.3:c.904C>G	ENSP00000477641.2:p.Arg302Gly
ENST00000585851.2:c.1102C>G	ENSP00000467912.2:p.Arg368Gly
ENST00000326873.12:c.1276C>G MANE Select	ENSP00000324856.6:p.Arg426Gly
ENST00000326873.11:c.1276C>G	ENSP00000324856.6:p.Arg426Gly
ENST00000585465.2:n.3009C>G
ENST00000586243.5:c.1273C>G	ENSP00000467240.2:p.Arg425Gly
ENST00000589152.5:n.1974C>G
NM_000455.4:c.1276C>G , LRG_319t1:c.1276C>G	NP_000446.1:p.Arg426Gly
XM_005259617.1:c.1271C>G	XP_005259674.1:p.Pro424Arg
XM_011528209.1:c.1049C>G	XP_011526511.1:p.Pro350Arg
XM_005259617.3:c.1271C>G	XP_005259674.1:p.Pro424Arg
XM_011528209.2:c.1049C>G	XP_011526511.1:p.Pro350Arg
XR_001753738.2:n.2082C>G
XR_001753740.2:n.2052C>G
NM_000455.5:c.1276C>G MANE Select	NP_000446.1:p.Arg426Gly