Canonical Allele Identifier: CA022175

Gene: STK11

Linked Data

• ClinVar Variation Id: 140986
• ClinVar RCV Id: RCV000129286 ; RCV000213030 ; RCV000197027 ; RCV000656982
• dbSNP Id: rs368547224
• ExAC: 19:1223090 G / A
• gnomAD v2: 19-1223090-G-A
• gnomAD v3: 19-1223091-G-A
• gnomAD v4: 19-1223091-G-A
• MyVariant Identifiers: chr19:g.1223090G>A (hg19) ; chr19:g.1223091G>A (hg38)
• PubMed: PMID:25742471 ; PMID:26354930 ; PMID:27043212

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223091G>A , CM000681.2:g.1223091G>A	GRCh38
NC_000019.9:g.1223090G>A , CM000681.1:g.1223090G>A	GRCh37
NC_000019.8:g.1174090G>A	NCBI36
NG_007460.2:g.38685G>A , LRG_319:g.38685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1027G>A	ENSP00000490268.2:p.Asp343Asn
ENST00000585748.3:c.655G>A	ENSP00000477641.2:p.Asp219Asn
ENST00000585851.2:c.853G>A	ENSP00000467912.2:p.Asp285Asn
ENST00000326873.12:c.1027G>A MANE Select	ENSP00000324856.6:p.Asp343Asn
ENST00000652231.1:c.1027G>A	ENSP00000498804.1:p.Asp343Asn
ENST00000326873.11:c.1027G>A	ENSP00000324856.6:p.Asp343Asn
ENST00000586243.5:c.1027G>A	ENSP00000467240.2:p.Asp343Asn
ENST00000589152.5:n.1725G>A
ENST00000591133.2:n.998G>A
NM_000455.4:c.1027G>A , LRG_319t1:c.1027G>A	NP_000446.1:p.Asp343Asn
XM_005259617.1:c.1027G>A	XP_005259674.1:p.Asp343Asn
XM_005259618.3:c.1027G>A	XP_005259675.1:p.Asp343Asn
XM_011528209.1:c.805G>A	XP_011526511.1:p.Asp269Asn
XR_936204.1:n.1803G>A
XM_005259617.3:c.1027G>A	XP_005259674.1:p.Asp343Asn
XM_011528209.2:c.805G>A	XP_011526511.1:p.Asp269Asn
XR_001753738.2:n.1833G>A
XR_001753739.1:n.1833G>A
XR_001753740.2:n.1803G>A
NM_000455.5:c.1027G>A MANE Select	NP_000446.1:p.Asp343Asn