Canonical Allele Identifier: CA022505

Gene: STK11

Linked Data

• ClinVar Variation Id: 127701
• ClinVar RCV Id: RCV000115597 ; RCV000200053 ; RCV000213038 ; RCV002281935
• dbSNP Id: rs372329880
• ExAC: 19:1226573 C / T
• gnomAD v2: 19-1226573-C-T
• gnomAD v3: 19-1226574-C-T
• gnomAD v4: 19-1226574-C-T
• MyVariant Identifiers: chr19:g.1226573C>T (hg19) ; chr19:g.1226574C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226574C>T , CM000681.2:g.1226574C>T	GRCh38
NC_000019.9:g.1226573C>T , CM000681.1:g.1226573C>T	GRCh37
NC_000019.8:g.1177573C>T	NCBI36
NG_007460.2:g.42168C>T , LRG_319:g.42168C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2830C>T	ENSP00000490268.2:n.*2830C>T
ENST00000585748.3:c.857C>T	ENSP00000477641.2:p.Ala286Val
ENST00000585851.2:c.1055C>T	ENSP00000467912.2:p.Ala352Val
ENST00000326873.12:c.1229C>T MANE Select	ENSP00000324856.6:p.Ala410Val
ENST00000326873.11:c.1229C>T	ENSP00000324856.6:p.Ala410Val
ENST00000585465.2:n.2962C>T
ENST00000586243.5:c.1228C>T	ENSP00000467240.2:p.Pro410Ser
ENST00000589152.5:n.1927C>T
NM_000455.4:c.1229C>T , LRG_319t1:c.1229C>T	NP_000446.1:p.Ala410Val
XM_005259617.1:c.1224C>T	XP_005259674.1:p.Gly408=
XM_011528209.1:c.1002C>T	XP_011526511.1:p.Gly334=
XM_005259617.3:c.1224C>T	XP_005259674.1:p.Gly408=
XM_011528209.2:c.1002C>T	XP_011526511.1:p.Gly334=
XR_001753738.2:n.2035C>T
XR_001753740.2:n.2005C>T
NM_000455.5:c.1229C>T MANE Select	NP_000446.1:p.Ala410Val