Canonical Allele Identifier: CA504707034

Gene: STK11

Linked Data

• ClinVar Variation Id: 480706
• ClinVar RCV Id: RCV000566745 ; RCV001415868
• dbSNP Id: rs1363669559
• gnomAD v2: 19-1221231-C-T
• gnomAD v4: 19-1221232-C-T
• MyVariant Identifiers: chr19:g.1221231C>T (hg19) ; chr19:g.1221232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1221232C>T , CM000681.2:g.1221232C>T	GRCh38
NC_000019.9:g.1221231C>T , CM000681.1:g.1221231C>T	GRCh37
NC_000019.8:g.1172231C>T	NCBI36
NG_007460.2:g.36826C>T , LRG_319:g.36826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.754C>T	ENSP00000490268.2:p.Leu252=
ENST00000585748.3:c.382C>T	ENSP00000477641.2:p.Leu128=
ENST00000585851.2:c.580C>T	ENSP00000467912.2:p.Leu194=
ENST00000326873.12:c.754C>T MANE Select	ENSP00000324856.6:p.Leu252=
ENST00000652231.1:c.754C>T	ENSP00000498804.1:p.Leu252=
ENST00000326873.11:c.754C>T	ENSP00000324856.6:p.Leu252=
ENST00000586243.5:c.754C>T	ENSP00000467240.2:p.Leu252=
ENST00000586358.5:n.652C>T
ENST00000589152.5:n.844C>T
ENST00000591133.2:n.725C>T
NM_000455.4:c.754C>T , LRG_319t1:c.754C>T	NP_000446.1:p.Leu252=
XM_005259617.1:c.754C>T	XP_005259674.1:p.Leu252=
XM_005259618.3:c.754C>T	XP_005259675.1:p.Leu252=
XM_011528209.1:c.532C>T	XP_011526511.1:p.Leu178=
XR_936204.1:n.1379C>T
XM_005259617.3:c.754C>T	XP_005259674.1:p.Leu252=
XM_011528209.2:c.532C>T	XP_011526511.1:p.Leu178=
XR_001753738.2:n.1379C>T
XR_001753739.1:n.1379C>T
XR_001753740.2:n.1379C>T
NM_000455.5:c.754C>T MANE Select	NP_000446.1:p.Leu252=