Canonical Allele Identifier: CA023339

Gene: STK11

Linked Data

• ClinVar Variation Id: 182887
• ClinVar RCV Id: RCV000160979 ; RCV000213025 ; RCV000586525 ; RCV001085913
• dbSNP Id: rs546089394
• ExAC: 19:1221985 C / T
• gnomAD v2: 19-1221985-C-T
• gnomAD v3: 19-1221986-C-T
• gnomAD v4: 19-1221986-C-T
• MyVariant Identifiers: chr19:g.1221985C>T (hg19) ; chr19:g.1221986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1221986C>T , CM000681.2:g.1221986C>T	GRCh38
NC_000019.9:g.1221985C>T , CM000681.1:g.1221985C>T	GRCh37
NC_000019.8:g.1172985C>T	NCBI36
NG_007460.2:g.37580C>T , LRG_319:g.37580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.900C>T	ENSP00000490268.2:p.Ile300=
ENST00000585748.3:c.528C>T	ENSP00000477641.2:p.Ile176=
ENST00000585851.2:c.726C>T	ENSP00000467912.2:p.Ile242=
ENST00000326873.12:c.900C>T MANE Select	ENSP00000324856.6:p.Ile300=
ENST00000652231.1:c.900C>T	ENSP00000498804.1:p.Ile300=
ENST00000326873.11:c.900C>T	ENSP00000324856.6:p.Ile300=
ENST00000586243.5:c.900C>T	ENSP00000467240.2:p.Ile300=
ENST00000589152.5:n.1598C>T
ENST00000591133.2:n.871C>T
NM_000455.4:c.900C>T , LRG_319t1:c.900C>T	NP_000446.1:p.Ile300=
XM_005259617.1:c.900C>T	XP_005259674.1:p.Ile300=
XM_005259618.3:c.900C>T	XP_005259675.1:p.Ile300=
XM_011528209.1:c.678C>T	XP_011526511.1:p.Ile226=
XR_936204.1:n.1676C>T
XM_005259617.3:c.900C>T	XP_005259674.1:p.Ile300=
XM_011528209.2:c.678C>T	XP_011526511.1:p.Ile226=
XR_001753738.2:n.1706C>T
XR_001753739.1:n.1706C>T
XR_001753740.2:n.1676C>T
NM_000455.5:c.900C>T MANE Select	NP_000446.1:p.Ile300=