Canonical Allele Identifier: CA10581018

Gene: STK11

Linked Data

• ClinVar Variation Id: 230965
• ClinVar RCV Id: RCV000220223 ; RCV000697411
• dbSNP Id: rs876658871
• gnomAD v4: 19-1226502-T-G
• MyVariant Identifiers: chr19:g.1226501T>G (hg19) ; chr19:g.1226502T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226502T>G , CM000681.2:g.1226502T>G	GRCh38
NC_000019.9:g.1226501T>G , CM000681.1:g.1226501T>G	GRCh37
NC_000019.8:g.1177501T>G	NCBI36
NG_007460.2:g.42096T>G , LRG_319:g.42096T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2758T>G	ENSP00000490268.2:n.*2758T>G
ENST00000585748.3:c.785T>G	ENSP00000477641.2:p.Leu262Arg
ENST00000585851.2:c.983T>G	ENSP00000467912.2:p.Leu328Arg
ENST00000326873.12:c.1157T>G MANE Select	ENSP00000324856.6:p.Leu386Arg
ENST00000326873.11:c.1157T>G	ENSP00000324856.6:p.Leu386Arg
ENST00000585465.2:n.2890T>G
ENST00000586243.5:c.1157T>G	ENSP00000467240.2:p.Leu386Arg
ENST00000589152.5:n.1855T>G
NM_000455.4:c.1157T>G , LRG_319t1:c.1157T>G	NP_000446.1:p.Leu386Arg
XM_005259617.1:c.1152T>G	XP_005259674.1:p.Pro384=
XM_011528209.1:c.930T>G	XP_011526511.1:p.Pro310=
XM_005259617.3:c.1152T>G	XP_005259674.1:p.Pro384=
XM_011528209.2:c.930T>G	XP_011526511.1:p.Pro310=
XR_001753738.2:n.1963T>G
XR_001753740.2:n.1933T>G
NM_000455.5:c.1157T>G MANE Select	NP_000446.1:p.Leu386Arg