Canonical Allele Identifier: CA350848

Gene: STK11

Linked Data

• ClinVar Variation Id: 219592
• ClinVar RCV Id: RCV000206855 ; RCV000561290 ; RCV003897442 ; RCV003477680
• dbSNP Id: rs864622171
• gnomAD v4: 19-1226575-C-T
• MyVariant Identifiers: chr19:g.1226574C>T (hg19) ; chr19:g.1226575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226575C>T , CM000681.2:g.1226575C>T	GRCh38
NC_000019.9:g.1226574C>T , CM000681.1:g.1226574C>T	GRCh37
NC_000019.8:g.1177574C>T	NCBI36
NG_007460.2:g.42169C>T , LRG_319:g.42169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2831C>T	ENSP00000490268.2:n.*2831C>T
ENST00000585748.3:c.858C>T	ENSP00000477641.2:p.Ala286=
ENST00000585851.2:c.1056C>T	ENSP00000467912.2:p.Ala352=
ENST00000326873.12:c.1230C>T MANE Select	ENSP00000324856.6:p.Ala410=
ENST00000326873.11:c.1230C>T	ENSP00000324856.6:p.Ala410=
ENST00000585465.2:n.2963C>T
ENST00000586243.5:c.1229C>T	ENSP00000467240.2:p.Pro410Leu
ENST00000589152.5:n.1928C>T
NM_000455.4:c.1230C>T , LRG_319t1:c.1230C>T	NP_000446.1:p.Ala410=
XM_005259617.1:c.1225C>T	XP_005259674.1:p.Pro409Ser
XM_011528209.1:c.1003C>T	XP_011526511.1:p.Pro335Ser
XM_005259617.3:c.1225C>T	XP_005259674.1:p.Pro409Ser
XM_011528209.2:c.1003C>T	XP_011526511.1:p.Pro335Ser
XR_001753738.2:n.2036C>T
XR_001753740.2:n.2006C>T
NM_000455.5:c.1230C>T MANE Select	NP_000446.1:p.Ala410=