Canonical Allele Identifier: CA402950647

Gene: STK11

Linked Data

• ClinVar Variation Id: 480721
• ClinVar RCV Id: RCV000574810 ; RCV000821248
• dbSNP Id: rs1555738685
• gnomAD v4: 19-1221302-C-T
• MyVariant Identifiers: chr19:g.1221301C>T (hg19) ; chr19:g.1221302C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1221302C>T , CM000681.2:g.1221302C>T	GRCh38
NC_000019.9:g.1221301C>T , CM000681.1:g.1221301C>T	GRCh37
NC_000019.8:g.1172301C>T	NCBI36
NG_007460.2:g.36896C>T , LRG_319:g.36896C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.824C>T	ENSP00000490268.2:p.Pro275Leu
ENST00000585748.3:c.452C>T	ENSP00000477641.2:p.Pro151Leu
ENST00000585851.2:c.650C>T	ENSP00000467912.2:p.Pro217Leu
ENST00000326873.12:c.824C>T MANE Select	ENSP00000324856.6:p.Pro275Leu
ENST00000652231.1:c.824C>T	ENSP00000498804.1:p.Pro275Leu
ENST00000326873.11:c.824C>T	ENSP00000324856.6:p.Pro275Leu
ENST00000586243.5:c.824C>T	ENSP00000467240.2:p.Pro275Leu
ENST00000586358.5:n.722C>T
ENST00000589152.5:n.914C>T
ENST00000591133.2:n.795C>T
NM_000455.4:c.824C>T , LRG_319t1:c.824C>T	NP_000446.1:p.Pro275Leu
XM_005259617.1:c.824C>T	XP_005259674.1:p.Pro275Leu
XM_005259618.3:c.824C>T	XP_005259675.1:p.Pro275Leu
XM_011528209.1:c.602C>T	XP_011526511.1:p.Pro201Leu
XR_936204.1:n.1449C>T
XM_005259617.3:c.824C>T	XP_005259674.1:p.Pro275Leu
XM_011528209.2:c.602C>T	XP_011526511.1:p.Pro201Leu
XR_001753738.2:n.1449C>T
XR_001753739.1:n.1449C>T
XR_001753740.2:n.1449C>T
NM_000455.5:c.824C>T MANE Select	NP_000446.1:p.Pro275Leu