Canonical Allele Identifier: CA022623

Gene: STK11

Linked Data

• ClinVar Variation Id: 139339
• ClinVar RCV Id: RCV000128305 ; RCV000213036 ; RCV000588407 ; RCV001079439 ; RCV003492578
• dbSNP Id: rs587781179
• ExAC: 19:1226640 G / A
• gnomAD v2: 19-1226640-G-A
• gnomAD v3: 19-1226641-G-A
• gnomAD v4: 19-1226641-G-A
• MyVariant Identifiers: chr19:g.1226640G>A (hg19) ; chr19:g.1226641G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226641G>A , CM000681.2:g.1226641G>A	GRCh38
NC_000019.9:g.1226640G>A , CM000681.1:g.1226640G>A	GRCh37
NC_000019.8:g.1177640G>A	NCBI36
NG_007460.2:g.42235G>A , LRG_319:g.42235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2897G>A	ENSP00000490268.2:n.*2897G>A
ENST00000585748.3:c.924G>A	ENSP00000477641.2:p.Gln308=
ENST00000585851.2:c.1122G>A	ENSP00000467912.2:p.Gln374=
ENST00000326873.12:c.1296G>A MANE Select	ENSP00000324856.6:p.Gln432=
ENST00000326873.11:c.1296G>A	ENSP00000324856.6:p.Gln432=
ENST00000585465.2:n.3029G>A
ENST00000586243.5:c.1293G>A	ENSP00000467240.2:p.Gln431=
ENST00000589152.5:n.1994G>A
NM_000455.4:c.1296G>A , LRG_319t1:c.1296G>A	NP_000446.1:p.Gln432=
XM_005259617.1:c.1291G>A	XP_005259674.1:p.Ala431Thr
XM_011528209.1:c.1069G>A	XP_011526511.1:p.Ala357Thr
XM_005259617.3:c.1291G>A	XP_005259674.1:p.Ala431Thr
XM_011528209.2:c.1069G>A	XP_011526511.1:p.Ala357Thr
XR_001753738.2:n.2102G>A
XR_001753740.2:n.2072G>A
NM_000455.5:c.1296G>A MANE Select	NP_000446.1:p.Gln432=