Canonical Allele Identifier: CA16608027

Gene: STK11

Linked Data

• ClinVar Variation Id: 388557
• ClinVar RCV Id: RCV000418374 ; RCV000509245
• dbSNP Id: rs1057523149
• gnomAD v4: 19-1226639-C-T
• MyVariant Identifiers: chr19:g.1226638C>T (hg19) ; chr19:g.1226639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226639C>T , CM000681.2:g.1226639C>T	GRCh38
NC_000019.9:g.1226638C>T , CM000681.1:g.1226638C>T	GRCh37
NC_000019.8:g.1177638C>T	NCBI36
NG_007460.2:g.42233C>T , LRG_319:g.42233C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.*2895C>T	ENSP00000490268.2:n.*2895C>T
ENST00000585748.3:c.922C>T	ENSP00000477641.2:p.Gln308Ter
ENST00000585851.2:c.1120C>T	ENSP00000467912.2:p.Gln374Ter
ENST00000326873.12:c.1294C>T MANE Select	ENSP00000324856.6:p.Gln432Ter
ENST00000326873.11:c.1294C>T	ENSP00000324856.6:p.Gln432Ter
ENST00000585465.2:n.3027C>T
ENST00000586243.5:c.1291C>T	ENSP00000467240.2:p.Gln431Ter
ENST00000589152.5:n.1992C>T
NM_000455.4:c.1294C>T , LRG_319t1:c.1294C>T	NP_000446.1:p.Gln432Ter
XM_005259617.1:c.1289C>T	XP_005259674.1:p.Ala430Val
XM_011528209.1:c.1067C>T	XP_011526511.1:p.Ala356Val
XM_005259617.3:c.1289C>T	XP_005259674.1:p.Ala430Val
XM_011528209.2:c.1067C>T	XP_011526511.1:p.Ala356Val
XR_001753738.2:n.2100C>T
XR_001753740.2:n.2070C>T
NM_000455.5:c.1294C>T MANE Select	NP_000446.1:p.Gln432Ter