Canonical Allele Identifier: CA046189

Gene: STK11

Linked Data

• ClinVar Variation Id: 403781
• ClinVar RCV Id: RCV000566963 ; RCV000460664 ; RCV000483419 ; RCV000766867 ; RCV001357284
• dbSNP Id: rs148830698
• ExAC: 19:1207037 G / T
• gnomAD v2: 19-1207037-G-T
• gnomAD v3: 19-1207038-G-T
• gnomAD v4: 19-1207038-G-T
• MyVariant Identifiers: chr19:g.1207037G>T (hg19) ; chr19:g.1207038G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1207038G>T , CM000681.2:g.1207038G>T	GRCh38
NC_000019.9:g.1207037G>T , CM000681.1:g.1207037G>T	GRCh37
NC_000019.8:g.1158037G>T	NCBI36
NG_007460.2:g.22632G>T , LRG_319:g.22632G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.125G>T	ENSP00000490268.2:p.Arg42Leu
ENST00000585748.3:c.-82-11379G>T	ENSP00000477641.2:n.-82-11379G>T
ENST00000585851.2:c.125G>T	ENSP00000467912.2:p.Arg42Leu
ENST00000326873.12:c.125G>T MANE Select	ENSP00000324856.6:p.Arg42Leu
ENST00000652231.1:c.125G>T	ENSP00000498804.1:p.Arg42Leu
ENST00000326873.11:c.125G>T	ENSP00000324856.6:p.Arg42Leu
ENST00000585748.2:c.-82-11379G>T	ENSP00000477641.1:n.-82-11379G>T
ENST00000585851.1:c.125G>T	ENSP00000467912.1:p.Arg42Leu
ENST00000586243.5:c.125G>T	ENSP00000467240.2:p.Arg42Leu
ENST00000589152.5:n.215G>T
ENST00000593219.5:c.125G>T	ENSP00000466610.1:p.Arg42Leu
NM_000455.4:c.125G>T , LRG_319t1:c.125G>T	NP_000446.1:p.Arg42Leu
XM_005259617.1:c.125G>T	XP_005259674.1:p.Arg42Leu
XM_005259618.3:c.125G>T	XP_005259675.1:p.Arg42Leu
XM_011528209.1:c.-229G>T	XP_011526511.1:n.-229G>T
XR_936204.1:n.750G>T
XM_005259617.3:c.125G>T	XP_005259674.1:p.Arg42Leu
XM_011528209.2:c.-229G>T	XP_011526511.1:n.-229G>T
XR_001753738.2:n.750G>T
XR_001753739.1:n.750G>T
XR_001753740.2:n.750G>T
NM_000455.5:c.125G>T MANE Select	NP_000446.1:p.Arg42Leu