Canonical Allele Identifier: CA023015

Gene: STK11

Linked Data

• ClinVar Variation Id: 141354
• ClinVar RCV Id: RCV000129842 ; RCV000537602 ; RCV000765430 ; RCV001355662 ; RCV000986037 ; RCV003149895 ; RCV004526619
• dbSNP Id: rs587781681
• ExAC: 19:1219417 G / A
• gnomAD v2: 19-1219417-G-A
• gnomAD v3: 19-1219418-G-A
• gnomAD v4: 19-1219418-G-A
• MyVariant Identifiers: chr19:g.1219417G>A (hg19) ; chr19:g.1219418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1219418G>A , CM000681.2:g.1219418G>A	GRCh38
NC_000019.9:g.1219417G>A , CM000681.1:g.1219417G>A	GRCh37
NC_000019.8:g.1170417G>A	NCBI36
NG_007460.2:g.35012G>A , LRG_319:g.35012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.464+5G>A	ENSP00000490268.2:n.464+5G>A
ENST00000585748.3:c.92+5G>A	ENSP00000477641.2:n.92+5G>A
ENST00000585851.2:c.291-955G>A	ENSP00000467912.2:n.291-955G>A
ENST00000326873.12:c.464+5G>A MANE Select	ENSP00000324856.6:n.464+5G>A
ENST00000652231.1:c.464+5G>A	ENSP00000498804.1:n.464+5G>A
ENST00000326873.11:c.464+5G>A	ENSP00000324856.6:n.464+5G>A
ENST00000585851.1:c.291-955G>A	ENSP00000467912.1:n.291-955G>A
ENST00000586243.5:c.464+5G>A	ENSP00000467240.2:n.464+5G>A
ENST00000586358.5:n.287+5G>A
ENST00000589152.5:n.554+5G>A
NM_000455.4:c.464+5G>A , LRG_319t1:c.464+5G>A	NP_000446.1:n.464+5G>A
XM_005259617.1:c.464+5G>A	XP_005259674.1:n.464+5G>A
XM_005259618.3:c.464+5G>A	XP_005259675.1:n.464+5G>A
XM_011528209.1:c.242+5G>A	XP_011526511.1:n.242+5G>A
XR_936204.1:n.1089+5G>A
XM_005259617.3:c.464+5G>A	XP_005259674.1:n.464+5G>A
XM_011528209.2:c.242+5G>A	XP_011526511.1:n.242+5G>A
XR_001753738.2:n.1089+5G>A
XR_001753739.1:n.1089+5G>A
XR_001753740.2:n.1089+5G>A
NM_000455.5:c.464+5G>A MANE Select	NP_000446.1:n.464+5G>A