Canonical Allele Identifier: CA022315

Gene: STK11

Linked Data

• ClinVar Variation Id: 141797
• ClinVar RCV Id: RCV000130449 ; RCV000200085 ; RCV000780768 ; RCV001711399 ; RCV003935221
• dbSNP Id: rs587782020
• ExAC: 19:1226448 C / T
• gnomAD v2: 19-1226448-C-T
• gnomAD v3: 19-1226449-C-T
• gnomAD v4: 19-1226449-C-T
• MyVariant Identifiers: chr19:g.1226448C>T (hg19) ; chr19:g.1226449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226449C>T , CM000681.2:g.1226449C>T	GRCh38
NC_000019.9:g.1226448C>T , CM000681.1:g.1226448C>T	GRCh37
NC_000019.8:g.1177448C>T	NCBI36
NG_007460.2:g.42043C>T , LRG_319:g.42043C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2705C>T	ENSP00000490268.2:n.*2705C>T
ENST00000585748.3:c.737-5C>T	ENSP00000477641.2:n.737-5C>T
ENST00000585851.2:c.935-5C>T	ENSP00000467912.2:n.935-5C>T
ENST00000326873.12:c.1109-5C>T MANE Select	ENSP00000324856.6:n.1109-5C>T
ENST00000326873.11:c.1109-5C>T	ENSP00000324856.6:n.1109-5C>T
ENST00000585465.2:n.2837C>T
ENST00000586243.5:c.1109-5C>T	ENSP00000467240.2:n.1109-5C>T
ENST00000589152.5:n.1807-5C>T
NM_000455.4:c.1109-5C>T , LRG_319t1:c.1109-5C>T	NP_000446.1:n.1109-5C>T
XM_005259617.1:c.1109-10C>T	XP_005259674.1:n.1109-10C>T
XM_011528209.1:c.887-10C>T	XP_011526511.1:n.887-10C>T
XM_005259617.3:c.1109-10C>T	XP_005259674.1:n.1109-10C>T
XM_011528209.2:c.887-10C>T	XP_011526511.1:n.887-10C>T
XR_001753738.2:n.1915-5C>T
XR_001753740.2:n.1885-5C>T
NM_000455.5:c.1109-5C>T MANE Select	NP_000446.1:n.1109-5C>T