Canonical Allele Identifier: CA022950

Gene: STK11

Linked Data

• ClinVar Variation Id: 184427
• ClinVar RCV Id: RCV000163682 ; RCV000613634 ; RCV001499204
• dbSNP Id: rs786201456
• gnomAD v2: 19-1219389-T-C
• gnomAD v3: 19-1219390-T-C
• gnomAD v4: 19-1219390-T-C
• MyVariant Identifiers: chr19:g.1219389T>C (hg19) ; chr19:g.1219390T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1219390T>C , CM000681.2:g.1219390T>C	GRCh38
NC_000019.9:g.1219389T>C , CM000681.1:g.1219389T>C	GRCh37
NC_000019.8:g.1170389T>C	NCBI36
NG_007460.2:g.34984T>C , LRG_319:g.34984T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.441T>C	ENSP00000490268.2:p.Arg147=
ENST00000585748.3:c.69T>C	ENSP00000477641.2:p.Arg23=
ENST00000585851.2:c.291-983T>C	ENSP00000467912.2:n.291-983T>C
ENST00000326873.12:c.441T>C MANE Select	ENSP00000324856.6:p.Arg147=
ENST00000652231.1:c.441T>C	ENSP00000498804.1:p.Arg147=
ENST00000326873.11:c.441T>C	ENSP00000324856.6:p.Arg147=
ENST00000585851.1:c.291-983T>C	ENSP00000467912.1:n.291-983T>C
ENST00000586243.5:c.441T>C	ENSP00000467240.2:p.Arg147=
ENST00000586358.5:n.264T>C
ENST00000589152.5:n.531T>C
NM_000455.4:c.441T>C , LRG_319t1:c.441T>C	NP_000446.1:p.Arg147=
XM_005259617.1:c.441T>C	XP_005259674.1:p.Arg147=
XM_005259618.3:c.441T>C	XP_005259675.1:p.Arg147=
XM_011528209.1:c.219T>C	XP_011526511.1:p.Arg73=
XR_936204.1:n.1066T>C
XM_005259617.3:c.441T>C	XP_005259674.1:p.Arg147=
XM_011528209.2:c.219T>C	XP_011526511.1:p.Arg73=
XR_001753738.2:n.1066T>C
XR_001753739.1:n.1066T>C
XR_001753740.2:n.1066T>C
NM_000455.5:c.441T>C MANE Select	NP_000446.1:p.Arg147=