Canonical Allele Identifier: CA402954201

Gene: STK11

Linked Data

• ClinVar Variation Id: 1767910
• ClinVar RCV Id: RCV002376665 ; RCV003094860
• dbSNP Id: rs1373682885
• gnomAD v4: 19-1226625-T-C
• MyVariant Identifiers: chr19:g.1226624T>C (hg19) ; chr19:g.1226625T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226625T>C , CM000681.2:g.1226625T>C	GRCh38
NC_000019.9:g.1226624T>C , CM000681.1:g.1226624T>C	GRCh37
NC_000019.8:g.1177624T>C	NCBI36
NG_007460.2:g.42219T>C , LRG_319:g.42219T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2881T>C	ENSP00000490268.2:n.*2881T>C
ENST00000585748.3:c.908T>C	ENSP00000477641.2:p.Leu303Pro
ENST00000585851.2:c.1106T>C	ENSP00000467912.2:p.Leu369Pro
ENST00000326873.12:c.1280T>C MANE Select	ENSP00000324856.6:p.Leu427Pro
ENST00000326873.11:c.1280T>C	ENSP00000324856.6:p.Leu427Pro
ENST00000585465.2:n.3013T>C
ENST00000586243.5:c.1277T>C	ENSP00000467240.2:p.Leu426Pro
ENST00000589152.5:n.1978T>C
NM_000455.4:c.1280T>C , LRG_319t1:c.1280T>C	NP_000446.1:p.Leu427Pro
XM_005259617.1:c.1275T>C	XP_005259674.1:p.Ala425=
XM_011528209.1:c.1053T>C	XP_011526511.1:p.Ala351=
XM_005259617.3:c.1275T>C	XP_005259674.1:p.Ala425=
XM_011528209.2:c.1053T>C	XP_011526511.1:p.Ala351=
XR_001753738.2:n.2086T>C
XR_001753740.2:n.2056T>C
NM_000455.5:c.1280T>C MANE Select	NP_000446.1:p.Leu427Pro