Canonical Allele Identifier: CA022615

Gene: STK11

Linked Data

• ClinVar Variation Id: 184106
• ClinVar RCV Id: RCV000163231 ; RCV000978984
• dbSNP Id: rs786201282
• MyVariant Identifiers: chr19:g.1226631C>T (hg19) ; chr19:g.1226632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226632C>T , CM000681.2:g.1226632C>T	GRCh38
NC_000019.9:g.1226631C>T , CM000681.1:g.1226631C>T	GRCh37
NC_000019.8:g.1177631C>T	NCBI36
NG_007460.2:g.42226C>T , LRG_319:g.42226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2888C>T	ENSP00000490268.2:n.*2888C>T
ENST00000585748.3:c.915C>T	ENSP00000477641.2:p.Ala305=
ENST00000585851.2:c.1113C>T	ENSP00000467912.2:p.Ala371=
ENST00000326873.12:c.1287C>T MANE Select	ENSP00000324856.6:p.Ala429=
ENST00000326873.11:c.1287C>T	ENSP00000324856.6:p.Ala429=
ENST00000585465.2:n.3020C>T
ENST00000586243.5:c.1284C>T	ENSP00000467240.2:p.Ala428=
ENST00000589152.5:n.1985C>T
NM_000455.4:c.1287C>T , LRG_319t1:c.1287C>T	NP_000446.1:p.Ala429=
XM_005259617.1:c.1282C>T	XP_005259674.1:p.Leu428=
XM_011528209.1:c.1060C>T	XP_011526511.1:p.Leu354=
XM_005259617.3:c.1282C>T	XP_005259674.1:p.Leu428=
XM_011528209.2:c.1060C>T	XP_011526511.1:p.Leu354=
XR_001753738.2:n.2093C>T
XR_001753740.2:n.2063C>T
NM_000455.5:c.1287C>T MANE Select	NP_000446.1:p.Ala429=