Canonical Allele Identifier: CA022637

Gene: STK11

Linked Data

• ClinVar Variation Id: 139341
• ClinVar RCV Id: RCV000128307 ; RCV000407873 ; RCV001725126 ; RCV002256084
• dbSNP Id: rs587781180
• ExAC: 19:1226672 G / A
• gnomAD v2: 19-1226672-G-A
• gnomAD v3: 19-1226673-G-A
• gnomAD v4: 19-1226673-G-A
• MyVariant Identifiers: chr19:g.1226672G>A (hg19) ; chr19:g.1226673G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226673G>A , CM000681.2:g.1226673G>A	GRCh38
NC_000019.9:g.1226672G>A , CM000681.1:g.1226672G>A	GRCh37
NC_000019.8:g.1177672G>A	NCBI36
NG_007460.2:g.42267G>A , LRG_319:g.42267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2919+10G>A	ENSP00000490268.2:n.*2919+10G>A
ENST00000585748.3:c.*16+10G>A	ENSP00000477641.2:n.*16+10G>A
ENST00000585851.2:c.*16+10G>A	ENSP00000467912.2:n.*16+10G>A
ENST00000326873.12:c.*16+10G>A MANE Select	ENSP00000324856.6:n.*16+10G>A
ENST00000326873.11:c.*16+10G>A	ENSP00000324856.6:n.*16+10G>A
ENST00000585465.2:n.3051+10G>A
ENST00000586243.5:c.*16+10G>A	ENSP00000467240.2:n.*16+10G>A
ENST00000589152.5:n.2026G>A
NM_000455.4:c.*16+10G>A , LRG_319t1:c.*16+10G>A	NP_000446.1:n.*16+10G>A
XM_005259617.1:c.1313+10G>A	XP_005259674.1:n.1313+10G>A
XM_011528209.1:c.1091+10G>A	XP_011526511.1:n.1091+10G>A
XM_005259617.3:c.1313+10G>A	XP_005259674.1:n.1313+10G>A
XM_011528209.2:c.1091+10G>A	XP_011526511.1:n.1091+10G>A
XR_001753738.2:n.2124+10G>A
XR_001753740.2:n.2094+10G>A
NM_000455.5:c.*16+10G>A MANE Select	NP_000446.1:n.*16+10G>A