Canonical Allele Identifier: CA504708543

Gene: STK11

Linked Data

• ClinVar Variation Id: 997878
• ClinVar RCV Id: RCV001293500 ; RCV001450345
• dbSNP Id: rs368466538
• gnomAD v4: 19-1226570-C-A
• MyVariant Identifiers: chr19:g.1226569C>A (hg19) ; chr19:g.1226570C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226570C>A , CM000681.2:g.1226570C>A	GRCh38
NC_000019.9:g.1226569C>A , CM000681.1:g.1226569C>A	GRCh37
NC_000019.8:g.1177569C>A	NCBI36
NG_007460.2:g.42164C>A , LRG_319:g.42164C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2826C>A	ENSP00000490268.2:n.*2826C>A
ENST00000585748.3:c.853C>A	ENSP00000477641.2:p.Arg285=
ENST00000585851.2:c.1051C>A	ENSP00000467912.2:p.Arg351=
ENST00000326873.12:c.1225C>A MANE Select	ENSP00000324856.6:p.Arg409=
ENST00000326873.11:c.1225C>A	ENSP00000324856.6:p.Arg409=
ENST00000585465.2:n.2958C>A
ENST00000586243.5:c.1224C>A	ENSP00000467240.2:p.Ala408=
ENST00000589152.5:n.1923C>A
NM_000455.4:c.1225C>A , LRG_319t1:c.1225C>A	NP_000446.1:p.Arg409=
XM_005259617.1:c.1220C>A	XP_005259674.1:p.Pro407Gln
XM_011528209.1:c.998C>A	XP_011526511.1:p.Pro333Gln
XM_005259617.3:c.1220C>A	XP_005259674.1:p.Pro407Gln
XM_011528209.2:c.998C>A	XP_011526511.1:p.Pro333Gln
XR_001753738.2:n.2031C>A
XR_001753740.2:n.2001C>A
NM_000455.5:c.1225C>A MANE Select	NP_000446.1:p.Arg409=