Canonical Allele Identifier: CA348502

Gene: STK11

Linked Data

• ClinVar Variation Id: 219493
• ClinVar RCV Id: RCV000204257 ; RCV000570906 ; RCV002277563
• dbSNP Id: rs864622118
• gnomAD v2: 19-1223094-T-C
• gnomAD v3: 19-1223095-T-C
• gnomAD v4: 19-1223095-T-C
• MyVariant Identifiers: chr19:g.1223094T>C (hg19) ; chr19:g.1223095T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223095T>C , CM000681.2:g.1223095T>C	GRCh38
NC_000019.9:g.1223094T>C , CM000681.1:g.1223094T>C	GRCh37
NC_000019.8:g.1174094T>C	NCBI36
NG_007460.2:g.38689T>C , LRG_319:g.38689T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1031T>C	ENSP00000490268.2:p.Leu344Pro
ENST00000585748.3:c.659T>C	ENSP00000477641.2:p.Leu220Pro
ENST00000585851.2:c.857T>C	ENSP00000467912.2:p.Leu286Pro
ENST00000326873.12:c.1031T>C MANE Select	ENSP00000324856.6:p.Leu344Pro
ENST00000652231.1:c.1031T>C	ENSP00000498804.1:p.Leu344Pro
ENST00000326873.11:c.1031T>C	ENSP00000324856.6:p.Leu344Pro
ENST00000586243.5:c.1031T>C	ENSP00000467240.2:p.Leu344Pro
ENST00000589152.5:n.1729T>C
ENST00000591133.2:n.1002T>C
NM_000455.4:c.1031T>C , LRG_319t1:c.1031T>C	NP_000446.1:p.Leu344Pro
XM_005259617.1:c.1031T>C	XP_005259674.1:p.Leu344Pro
XM_005259618.3:c.1031T>C	XP_005259675.1:p.Leu344Pro
XM_011528209.1:c.809T>C	XP_011526511.1:p.Leu270Pro
XR_936204.1:n.1807T>C
XM_005259617.3:c.1031T>C	XP_005259674.1:p.Leu344Pro
XM_011528209.2:c.809T>C	XP_011526511.1:p.Leu270Pro
XR_001753738.2:n.1837T>C
XR_001753739.1:n.1837T>C
XR_001753740.2:n.1807T>C
NM_000455.5:c.1031T>C MANE Select	NP_000446.1:p.Leu344Pro