Canonical Allele Identifier: CA10648294

Gene: STK11

Linked Data

• ClinVar Variation Id: 328223
• ClinVar RCV Id: RCV000331333 ; RCV002510865
• dbSNP Id: rs532196225
• gnomAD v2: 19-1206786-T-C
• gnomAD v3: 19-1206787-T-C
• gnomAD v4: 19-1206787-T-C
• COSMIC: COSN229746
• MyVariant Identifiers: chr19:g.1206786T>C (hg19) ; chr19:g.1206787T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1206787T>C , CM000681.2:g.1206787T>C	GRCh38
NC_000019.9:g.1206786T>C , CM000681.1:g.1206786T>C	GRCh37
NC_000019.8:g.1157786T>C	NCBI36
NG_007460.2:g.22381T>C , LRG_319:g.22381T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.-127T>C	ENSP00000490268.2:n.-127T>C
ENST00000585748.3:c.-82-11630T>C	ENSP00000477641.2:n.-82-11630T>C
ENST00000326873.12:c.-127T>C MANE Select	ENSP00000324856.6:n.-127T>C
ENST00000652231.1:c.-127T>C	ENSP00000498804.1:n.-127T>C
ENST00000326873.11:c.-127T>C	ENSP00000324856.6:n.-127T>C
ENST00000585748.2:c.-82-11630T>C	ENSP00000477641.1:n.-82-11630T>C
ENST00000586243.5:c.-127T>C	ENSP00000467240.2:n.-127T>C
NM_000455.4:c.-127T>C , LRG_319t1:c.-127T>C	NP_000446.1:n.-127T>C
XM_005259617.1:c.-127T>C	XP_005259674.1:n.-127T>C
XM_005259618.3:c.-127T>C	XP_005259675.1:n.-127T>C
XM_011528209.1:c.-480T>C	XP_011526511.1:n.-480T>C
XR_936204.1:n.499T>C
XM_005259617.3:c.-127T>C	XP_005259674.1:n.-127T>C
XM_011528209.2:c.-480T>C	XP_011526511.1:n.-480T>C
XR_001753738.2:n.499T>C
XR_001753739.1:n.499T>C
XR_001753740.2:n.499T>C
NM_000455.5:c.-127T>C MANE Select	NP_000446.1:n.-127T>C