Canonical Allele Identifier: CA023381

Gene: STK11

Linked Data

• ClinVar Variation Id: 127710
• ClinVar RCV Id: RCV000115606 ; RCV000168083 ; RCV000213028 ; RCV003964969 ; RCV003477496
• dbSNP Id: rs549474196
• ExAC: 19:1223033 C / G
• gnomAD v2: 19-1223033-C-G
• gnomAD v3: 19-1223034-C-G
• gnomAD v4: 19-1223034-C-G
• MyVariant Identifiers: chr19:g.1223033C>G (hg19) ; chr19:g.1223034C>G (hg38)
• PubMed: PMID:25117502 ; PMID:25980754

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223034C>G , CM000681.2:g.1223034C>G	GRCh38
NC_000019.9:g.1223033C>G , CM000681.1:g.1223033C>G	GRCh37
NC_000019.8:g.1174033C>G	NCBI36
NG_007460.2:g.38628C>G , LRG_319:g.38628C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.970C>G	ENSP00000490268.2:p.Pro324Ala
ENST00000585748.3:c.598C>G	ENSP00000477641.2:p.Pro200Ala
ENST00000585851.2:c.796C>G	ENSP00000467912.2:p.Pro266Ala
ENST00000326873.12:c.970C>G MANE Select	ENSP00000324856.6:p.Pro324Ala
ENST00000652231.1:c.970C>G	ENSP00000498804.1:p.Pro324Ala
ENST00000326873.11:c.970C>G	ENSP00000324856.6:p.Pro324Ala
ENST00000586243.5:c.970C>G	ENSP00000467240.2:p.Pro324Ala
ENST00000589152.5:n.1668C>G
ENST00000591133.2:n.941C>G
NM_000455.4:c.970C>G , LRG_319t1:c.970C>G	NP_000446.1:p.Pro324Ala
XM_005259617.1:c.970C>G	XP_005259674.1:p.Pro324Ala
XM_005259618.3:c.970C>G	XP_005259675.1:p.Pro324Ala
XM_011528209.1:c.748C>G	XP_011526511.1:p.Pro250Ala
XR_936204.1:n.1746C>G
XM_005259617.3:c.970C>G	XP_005259674.1:p.Pro324Ala
XM_011528209.2:c.748C>G	XP_011526511.1:p.Pro250Ala
XR_001753738.2:n.1776C>G
XR_001753739.1:n.1776C>G
XR_001753740.2:n.1746C>G
NM_000455.5:c.970C>G MANE Select	NP_000446.1:p.Pro324Ala