Canonical Allele Identifier: CA402950361

Gene: STK11

Linked Data

• ClinVar Variation Id: 566431
• ClinVar RCV Id: RCV000686238 ; RCV001026488
• dbSNP Id: rs1568709142
• MyVariant Identifiers: chr19:g.1221225A>G (hg19) ; chr19:g.1221226A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1221226A>G , CM000681.2:g.1221226A>G	GRCh38
NC_000019.9:g.1221225A>G , CM000681.1:g.1221225A>G	GRCh37
NC_000019.8:g.1172225A>G	NCBI36
NG_007460.2:g.36820A>G , LRG_319:g.36820A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.748A>G	ENSP00000490268.2:p.Thr250Ala
ENST00000585748.3:c.376A>G	ENSP00000477641.2:p.Thr126Ala
ENST00000585851.2:c.574A>G	ENSP00000467912.2:p.Thr192Ala
ENST00000326873.12:c.748A>G MANE Select	ENSP00000324856.6:p.Thr250Ala
ENST00000652231.1:c.748A>G	ENSP00000498804.1:p.Thr250Ala
ENST00000326873.11:c.748A>G	ENSP00000324856.6:p.Thr250Ala
ENST00000586243.5:c.748A>G	ENSP00000467240.2:p.Thr250Ala
ENST00000586358.5:n.646A>G
ENST00000589152.5:n.838A>G
ENST00000591133.2:n.719A>G
NM_000455.4:c.748A>G , LRG_319t1:c.748A>G	NP_000446.1:p.Thr250Ala
XM_005259617.1:c.748A>G	XP_005259674.1:p.Thr250Ala
XM_005259618.3:c.748A>G	XP_005259675.1:p.Thr250Ala
XM_011528209.1:c.526A>G	XP_011526511.1:p.Thr176Ala
XR_936204.1:n.1373A>G
XM_005259617.3:c.748A>G	XP_005259674.1:p.Thr250Ala
XM_011528209.2:c.526A>G	XP_011526511.1:p.Thr176Ala
XR_001753738.2:n.1373A>G
XR_001753739.1:n.1373A>G
XR_001753740.2:n.1373A>G
NM_000455.5:c.748A>G MANE Select	NP_000446.1:p.Thr250Ala