Canonical Allele Identifier: CA045737

Gene: STK11

Linked Data

• ClinVar Variation Id: 1103511
• ClinVar RCV Id: RCV001427215
• dbSNP Id: rs746930791
• ExAC: 19:1226520 G / A
• gnomAD v2: 19-1226520-G-A
• gnomAD v3: 19-1226521-G-A
• gnomAD v4: 19-1226521-G-A
• MyVariant Identifiers: chr19:g.1226520G>A (hg19) ; chr19:g.1226521G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226521G>A , CM000681.2:g.1226521G>A	GRCh38
NC_000019.9:g.1226520G>A , CM000681.1:g.1226520G>A	GRCh37
NC_000019.8:g.1177520G>A	NCBI36
NG_007460.2:g.42115G>A , LRG_319:g.42115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2777G>A	ENSP00000490268.2:n.*2777G>A
ENST00000585748.3:c.804G>A	ENSP00000477641.2:p.Met268Ile
ENST00000585851.2:c.1002G>A	ENSP00000467912.2:p.Met334Ile
ENST00000326873.12:c.1176G>A MANE Select	ENSP00000324856.6:p.Met392Ile
ENST00000326873.11:c.1176G>A	ENSP00000324856.6:p.Met392Ile
ENST00000585465.2:n.2909G>A
ENST00000586243.5:c.1176G>A	ENSP00000467240.2:p.Met392Ile
ENST00000589152.5:n.1874G>A
NM_000455.4:c.1176G>A , LRG_319t1:c.1176G>A	NP_000446.1:p.Met392Ile
XM_005259617.1:c.1171G>A	XP_005259674.1:p.Glu391Lys
XM_011528209.1:c.949G>A	XP_011526511.1:p.Glu317Lys
XM_005259617.3:c.1171G>A	XP_005259674.1:p.Glu391Lys
XM_011528209.2:c.949G>A	XP_011526511.1:p.Glu317Lys
XR_001753738.2:n.1982G>A
XR_001753740.2:n.1952G>A
NM_000455.5:c.1176G>A MANE Select	NP_000446.1:p.Met392Ile