Canonical Allele Identifier: CA022593

Gene: STK11

Linked Data

• ClinVar Variation Id: 184011
• ClinVar RCV Id: RCV000163116 ; RCV000168123 ; RCV001194241 ; RCV002298489
• dbSNP Id: rs587782687
• ExAC: 19:1226620 C / T
• gnomAD v2: 19-1226620-C-T
• gnomAD v3: 19-1226621-C-T
• gnomAD v4: 19-1226621-C-T
• COSMIC: COSM27314
• MyVariant Identifiers: chr19:g.1226620C>T (hg19) ; chr19:g.1226621C>T (hg38)
• PubMed: PMID:23399955

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2877C>T	ENSP00000490268.2:n.*2877C>T
ENST00000585748.3:c.904C>T	ENSP00000477641.2:p.Arg302Trp
ENST00000585851.2:c.1102C>T	ENSP00000467912.2:p.Arg368Trp
ENST00000326873.12:c.1276C>T MANE Select	ENSP00000324856.6:p.Arg426Trp
ENST00000326873.11:c.1276C>T	ENSP00000324856.6:p.Arg426Trp
ENST00000585465.2:n.3009C>T
ENST00000586243.5:c.1273C>T	ENSP00000467240.2:p.Arg425Trp
ENST00000589152.5:n.1974C>T
NM_000455.4:c.1276C>T , LRG_319t1:c.1276C>T	NP_000446.1:p.Arg426Trp
XM_005259617.1:c.1271C>T	XP_005259674.1:p.Pro424Leu
XM_011528209.1:c.1049C>T	XP_011526511.1:p.Pro350Leu
XM_005259617.3:c.1271C>T	XP_005259674.1:p.Pro424Leu
XM_011528209.2:c.1049C>T	XP_011526511.1:p.Pro350Leu
XR_001753738.2:n.2082C>T
XR_001753740.2:n.2052C>T
NM_000455.5:c.1276C>T MANE Select	NP_000446.1:p.Arg426Trp