Canonical Allele Identifier: CA022368

Gene: STK11

Linked Data

• ClinVar Variation Id: 142537
• ClinVar RCV Id: RCV000131727 ; RCV000465830 ; RCV000986034 ; RCV002267881
• dbSNP Id: rs371102112
• ExAC: 19:1226495 G / A
• gnomAD v2: 19-1226495-G-A
• gnomAD v3: 19-1226496-G-A
• gnomAD v4: 19-1226496-G-A
• MyVariant Identifiers: chr19:g.1226495G>A (hg19) ; chr19:g.1226496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226496G>A , CM000681.2:g.1226496G>A	GRCh38
NC_000019.9:g.1226495G>A , CM000681.1:g.1226495G>A	GRCh37
NC_000019.8:g.1177495G>A	NCBI36
NG_007460.2:g.42090G>A , LRG_319:g.42090G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2752G>A	ENSP00000490268.2:n.*2752G>A
ENST00000585748.3:c.779G>A	ENSP00000477641.2:p.Arg260Gln
ENST00000585851.2:c.977G>A	ENSP00000467912.2:p.Arg326Gln
ENST00000326873.12:c.1151G>A MANE Select	ENSP00000324856.6:p.Arg384Gln
ENST00000326873.11:c.1151G>A	ENSP00000324856.6:p.Arg384Gln
ENST00000585465.2:n.2884G>A
ENST00000586243.5:c.1151G>A	ENSP00000467240.2:p.Arg384Gln
ENST00000589152.5:n.1849G>A
NM_000455.4:c.1151G>A , LRG_319t1:c.1151G>A	NP_000446.1:p.Arg384Gln
XM_005259617.1:c.1146G>A	XP_005259674.1:p.Pro382=
XM_011528209.1:c.924G>A	XP_011526511.1:p.Pro308=
XM_005259617.3:c.1146G>A	XP_005259674.1:p.Pro382=
XM_011528209.2:c.924G>A	XP_011526511.1:p.Pro308=
XR_001753738.2:n.1957G>A
XR_001753740.2:n.1927G>A
NM_000455.5:c.1151G>A MANE Select	NP_000446.1:p.Arg384Gln