Canonical Allele Identifier: CA047077

Gene: STK11

Linked Data

• ClinVar Variation Id: 420770
• ClinVar RCV Id: RCV000479549 ; RCV000573267 ; RCV000796866
• dbSNP Id: rs375622587
• ExAC: 19:1218442 G / A
• gnomAD v2: 19-1218442-G-A
• gnomAD v4: 19-1218443-G-A
• MyVariant Identifiers: chr19:g.1218442G>A (hg19) ; chr19:g.1218443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1218443G>A , CM000681.2:g.1218443G>A	GRCh38
NC_000019.9:g.1218442G>A , CM000681.1:g.1218442G>A	GRCh37
NC_000019.8:g.1169442G>A	NCBI36
NG_007460.2:g.34037G>A , LRG_319:g.34037G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.317G>A	ENSP00000490268.2:p.Arg106Gln
ENST00000585748.3:c.-56G>A	ENSP00000477641.2:n.-56G>A
ENST00000585851.2:c.291-1930G>A	ENSP00000467912.2:n.291-1930G>A
ENST00000326873.12:c.317G>A MANE Select	ENSP00000324856.6:p.Arg106Gln
ENST00000652231.1:c.317G>A	ENSP00000498804.1:p.Arg106Gln
ENST00000326873.11:c.317G>A	ENSP00000324856.6:p.Arg106Gln
ENST00000585748.2:c.-56G>A	ENSP00000477641.1:n.-56G>A
ENST00000585851.1:c.291-1930G>A	ENSP00000467912.1:n.291-1930G>A
ENST00000586243.5:c.317G>A	ENSP00000467240.2:p.Arg106Gln
ENST00000586358.5:n.140G>A
ENST00000589152.5:n.407G>A
ENST00000593219.5:c.*142G>A	ENSP00000466610.1:n.*142G>A
NM_000455.4:c.317G>A , LRG_319t1:c.317G>A	NP_000446.1:p.Arg106Gln
XM_005259617.1:c.317G>A	XP_005259674.1:p.Arg106Gln
XM_005259618.3:c.317G>A	XP_005259675.1:p.Arg106Gln
XM_011528209.1:c.95G>A	XP_011526511.1:p.Arg32Gln
XR_936204.1:n.942G>A
XM_005259617.3:c.317G>A	XP_005259674.1:p.Arg106Gln
XM_011528209.2:c.95G>A	XP_011526511.1:p.Arg32Gln
XR_001753738.2:n.942G>A
XR_001753739.1:n.942G>A
XR_001753740.2:n.942G>A
NM_000455.5:c.317G>A MANE Select	NP_000446.1:p.Arg106Gln