Canonical Allele Identifier: CA022448

Gene: STK11

Linked Data

• ClinVar Variation Id: 135916
• ClinVar RCV Id: RCV000128304 ; RCV000213034 ; RCV000588156 ; RCV001080617
• dbSNP Id: rs184271025
• ExAC: 19:1226538 G / A
• gnomAD v2: 19-1226538-G-A
• gnomAD v3: 19-1226539-G-A
• gnomAD v4: 19-1226539-G-A
• MyVariant Identifiers: chr19:g.1226538G>A (hg19) ; chr19:g.1226539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226539G>A , CM000681.2:g.1226539G>A	GRCh38
NC_000019.9:g.1226538G>A , CM000681.1:g.1226538G>A	GRCh37
NC_000019.8:g.1177538G>A	NCBI36
NG_007460.2:g.42133G>A , LRG_319:g.42133G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.*2795G>A	ENSP00000490268.2:n.*2795G>A
ENST00000585748.3:c.822G>A	ENSP00000477641.2:p.Ala274=
ENST00000585851.2:c.1020G>A	ENSP00000467912.2:p.Ala340=
ENST00000326873.12:c.1194G>A MANE Select	ENSP00000324856.6:p.Ala398=
ENST00000326873.11:c.1194G>A	ENSP00000324856.6:p.Ala398=
ENST00000585465.2:n.2927G>A
ENST00000586243.5:c.1194G>A	ENSP00000467240.2:p.Ala398=
ENST00000589152.5:n.1892G>A
NM_000455.4:c.1194G>A , LRG_319t1:c.1194G>A	NP_000446.1:p.Ala398=
XM_005259617.1:c.1189G>A	XP_005259674.1:p.Ala397Thr
XM_011528209.1:c.967G>A	XP_011526511.1:p.Ala323Thr
XM_005259617.3:c.1189G>A	XP_005259674.1:p.Ala397Thr
XM_011528209.2:c.967G>A	XP_011526511.1:p.Ala323Thr
XR_001753738.2:n.2000G>A
XR_001753740.2:n.1970G>A
NM_000455.5:c.1194G>A MANE Select	NP_000446.1:p.Ala398=