Canonical Allele Identifier: CA023387

Gene: STK11

Linked Data

• ClinVar Variation Id: 185194
• ClinVar RCV Id: RCV000164564 ; RCV000538505 ; RCV000781889 ; RCV001551036
• dbSNP Id: rs553474397
• ExAC: 19:1223035 G / A
• gnomAD v2: 19-1223035-G-A
• gnomAD v3: 19-1223036-G-A
• gnomAD v4: 19-1223036-G-A
• MyVariant Identifiers: chr19:g.1223035G>A (hg19) ; chr19:g.1223036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223036G>A , CM000681.2:g.1223036G>A	GRCh38
NC_000019.9:g.1223035G>A , CM000681.1:g.1223035G>A	GRCh37
NC_000019.8:g.1174035G>A	NCBI36
NG_007460.2:g.38630G>A , LRG_319:g.38630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.972G>A	ENSP00000490268.2:p.Pro324=
ENST00000585748.3:c.600G>A	ENSP00000477641.2:p.Pro200=
ENST00000585851.2:c.798G>A	ENSP00000467912.2:p.Pro266=
ENST00000326873.12:c.972G>A MANE Select	ENSP00000324856.6:p.Pro324=
ENST00000652231.1:c.972G>A	ENSP00000498804.1:p.Pro324=
ENST00000326873.11:c.972G>A	ENSP00000324856.6:p.Pro324=
ENST00000586243.5:c.972G>A	ENSP00000467240.2:p.Pro324=
ENST00000589152.5:n.1670G>A
ENST00000591133.2:n.943G>A
NM_000455.4:c.972G>A , LRG_319t1:c.972G>A	NP_000446.1:p.Pro324=
XM_005259617.1:c.972G>A	XP_005259674.1:p.Pro324=
XM_005259618.3:c.972G>A	XP_005259675.1:p.Pro324=
XM_011528209.1:c.750G>A	XP_011526511.1:p.Pro250=
XR_936204.1:n.1748G>A
XM_005259617.3:c.972G>A	XP_005259674.1:p.Pro324=
XM_011528209.2:c.750G>A	XP_011526511.1:p.Pro250=
XR_001753738.2:n.1778G>A
XR_001753739.1:n.1778G>A
XR_001753740.2:n.1748G>A
NM_000455.5:c.972G>A MANE Select	NP_000446.1:p.Pro324=