Canonical Allele Identifier: CA504708485

Gene: STK11

Linked Data

• ClinVar Variation Id: 676418
• ClinVar RCV Id: RCV000835854 ; RCV001500642 ; RCV003353069
• dbSNP Id: rs1229258407
• gnomAD v2: 19-1226517-T-C
• gnomAD v3: 19-1226518-T-C
• gnomAD v4: 19-1226518-T-C
• MyVariant Identifiers: chr19:g.1226517T>C (hg19) ; chr19:g.1226518T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226518T>C , CM000681.2:g.1226518T>C	GRCh38
NC_000019.9:g.1226517T>C , CM000681.1:g.1226517T>C	GRCh37
NC_000019.8:g.1177517T>C	NCBI36
NG_007460.2:g.42112T>C , LRG_319:g.42112T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2774T>C	ENSP00000490268.2:n.*2774T>C
ENST00000585748.3:c.801T>C	ENSP00000477641.2:p.Cys267=
ENST00000585851.2:c.999T>C	ENSP00000467912.2:p.Cys333=
ENST00000326873.12:c.1173T>C MANE Select	ENSP00000324856.6:p.Cys391=
ENST00000326873.11:c.1173T>C	ENSP00000324856.6:p.Cys391=
ENST00000585465.2:n.2906T>C
ENST00000586243.5:c.1173T>C	ENSP00000467240.2:p.Cys391=
ENST00000589152.5:n.1871T>C
NM_000455.4:c.1173T>C , LRG_319t1:c.1173T>C	NP_000446.1:p.Cys391=
XM_005259617.1:c.1168T>C	XP_005259674.1:p.Tyr390His
XM_011528209.1:c.946T>C	XP_011526511.1:p.Tyr316His
XM_005259617.3:c.1168T>C	XP_005259674.1:p.Tyr390His
XM_011528209.2:c.946T>C	XP_011526511.1:p.Tyr316His
XR_001753738.2:n.1979T>C
XR_001753740.2:n.1949T>C
NM_000455.5:c.1173T>C MANE Select	NP_000446.1:p.Cys391=