Canonical Allele Identifier: CA022959

Gene: STK11

Linked Data

• ClinVar Variation Id: 141508
• ClinVar RCV Id: RCV000130068 ; RCV000199606 ; RCV000582047 ; RCV001557521 ; RCV003415947
• dbSNP Id: rs587781802
• ExAC: 19:1219397 T / C
• gnomAD v2: 19-1219397-T-C
• gnomAD v3: 19-1219398-T-C
• gnomAD v4: 19-1219398-T-C
• MyVariant Identifiers: chr19:g.1219397T>C (hg19) ; chr19:g.1219398T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1219398T>C , CM000681.2:g.1219398T>C	GRCh38
NC_000019.9:g.1219397T>C , CM000681.1:g.1219397T>C	GRCh37
NC_000019.8:g.1170397T>C	NCBI36
NG_007460.2:g.34992T>C , LRG_319:g.34992T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.449T>C	ENSP00000490268.2:p.Val150Ala
ENST00000585748.3:c.77T>C	ENSP00000477641.2:p.Val26Ala
ENST00000585851.2:c.291-975T>C	ENSP00000467912.2:n.291-975T>C
ENST00000326873.12:c.449T>C MANE Select	ENSP00000324856.6:p.Val150Ala
ENST00000652231.1:c.449T>C	ENSP00000498804.1:p.Val150Ala
ENST00000326873.11:c.449T>C	ENSP00000324856.6:p.Val150Ala
ENST00000585851.1:c.291-975T>C	ENSP00000467912.1:n.291-975T>C
ENST00000586243.5:c.449T>C	ENSP00000467240.2:p.Val150Ala
ENST00000586358.5:n.272T>C
ENST00000589152.5:n.539T>C
NM_000455.4:c.449T>C , LRG_319t1:c.449T>C	NP_000446.1:p.Val150Ala
XM_005259617.1:c.449T>C	XP_005259674.1:p.Val150Ala
XM_005259618.3:c.449T>C	XP_005259675.1:p.Val150Ala
XM_011528209.1:c.227T>C	XP_011526511.1:p.Val76Ala
XR_936204.1:n.1074T>C
XM_005259617.3:c.449T>C	XP_005259674.1:p.Val150Ala
XM_011528209.2:c.227T>C	XP_011526511.1:p.Val76Ala
XR_001753738.2:n.1074T>C
XR_001753739.1:n.1074T>C
XR_001753740.2:n.1074T>C
NM_000455.5:c.449T>C MANE Select	NP_000446.1:p.Val150Ala