Canonical Allele Identifier: CA16616220

Gene: STK11

Linked Data

• ClinVar Variation Id: 403772
• ClinVar RCV Id: RCV000463079 ; RCV000492630 ; RCV000520340 ; RCV001199886
• dbSNP Id: rs1060499958
• gnomAD v4: 19-1219356-T-C
• MyVariant Identifiers: chr19:g.1219355T>C (hg19) ; chr19:g.1219356T>C (hg38)
• PubMed: PMID:11389158 ; PMID:24260271

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1219356T>C , CM000681.2:g.1219356T>C	GRCh38
NC_000019.9:g.1219355T>C , CM000681.1:g.1219355T>C	GRCh37
NC_000019.8:g.1170355T>C	NCBI36
NG_007460.2:g.34950T>C , LRG_319:g.34950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.407T>C	ENSP00000490268.2:p.Met136Thr
ENST00000585748.3:c.35T>C	ENSP00000477641.2:p.Met12Thr
ENST00000585851.2:c.291-1017T>C	ENSP00000467912.2:n.291-1017T>C
ENST00000326873.12:c.407T>C MANE Select	ENSP00000324856.6:p.Met136Thr
ENST00000652231.1:c.407T>C	ENSP00000498804.1:p.Met136Thr
ENST00000326873.11:c.407T>C	ENSP00000324856.6:p.Met136Thr
ENST00000585748.2:c.35T>C	ENSP00000477641.1:p.Met12Thr
ENST00000585851.1:c.291-1017T>C	ENSP00000467912.1:n.291-1017T>C
ENST00000586243.5:c.407T>C	ENSP00000467240.2:p.Met136Thr
ENST00000586358.5:n.230T>C
ENST00000589152.5:n.497T>C
ENST00000593219.5:c.*232T>C	ENSP00000466610.1:n.*232T>C
NM_000455.4:c.407T>C , LRG_319t1:c.407T>C	NP_000446.1:p.Met136Thr
XM_005259617.1:c.407T>C	XP_005259674.1:p.Met136Thr
XM_005259618.3:c.407T>C	XP_005259675.1:p.Met136Thr
XM_011528209.1:c.185T>C	XP_011526511.1:p.Met62Thr
XR_936204.1:n.1032T>C
XM_005259617.3:c.407T>C	XP_005259674.1:p.Met136Thr
XM_011528209.2:c.185T>C	XP_011526511.1:p.Met62Thr
XR_001753738.2:n.1032T>C
XR_001753739.1:n.1032T>C
XR_001753740.2:n.1032T>C
NM_000455.5:c.407T>C MANE Select	NP_000446.1:p.Met136Thr