Canonical Allele Identifier: CA022462

Gene: STK11

Linked Data

• ClinVar Variation Id: 142186
• ClinVar RCV Id: RCV000131172 ; RCV000703409 ; RCV002465531 ; RCV003462008
• dbSNP Id: rs587782291
• gnomAD v4: 19-1226547-G-A
• MyVariant Identifiers: chr19:g.1226546G>A (hg19) ; chr19:g.1226547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226547G>A , CM000681.2:g.1226547G>A	GRCh38
NC_000019.9:g.1226546G>A , CM000681.1:g.1226546G>A	GRCh37
NC_000019.8:g.1177546G>A	NCBI36
NG_007460.2:g.42141G>A , LRG_319:g.42141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2803G>A	ENSP00000490268.2:n.*2803G>A
ENST00000585748.3:c.830G>A	ENSP00000477641.2:p.Ser277Asn
ENST00000585851.2:c.1028G>A	ENSP00000467912.2:p.Ser343Asn
ENST00000326873.12:c.1202G>A MANE Select	ENSP00000324856.6:p.Ser401Asn
ENST00000326873.11:c.1202G>A	ENSP00000324856.6:p.Ser401Asn
ENST00000585465.2:n.2935G>A
ENST00000586243.5:c.1202G>A	ENSP00000467240.2:p.Ser401Asn
ENST00000589152.5:n.1900G>A
NM_000455.4:c.1202G>A , LRG_319t1:c.1202G>A	NP_000446.1:p.Ser401Asn
XM_005259617.1:c.1197G>A	XP_005259674.1:p.Glu399=
XM_011528209.1:c.975G>A	XP_011526511.1:p.Glu325=
XM_005259617.3:c.1197G>A	XP_005259674.1:p.Glu399=
XM_011528209.2:c.975G>A	XP_011526511.1:p.Glu325=
XR_001753738.2:n.2008G>A
XR_001753740.2:n.1978G>A
NM_000455.5:c.1202G>A MANE Select	NP_000446.1:p.Ser401Asn