Canonical Allele Identifier: CA402950345

Gene: STK11

Linked Data

• ClinVar Variation Id: 827048
• ClinVar RCV Id: RCV001026439 ; RCV001340410
• dbSNP Id: rs1599927536
• gnomAD v4: 19-1221221-T-C
• MyVariant Identifiers: chr19:g.1221220T>C (hg19) ; chr19:g.1221221T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1221221T>C , CM000681.2:g.1221221T>C	GRCh38
NC_000019.9:g.1221220T>C , CM000681.1:g.1221220T>C	GRCh37
NC_000019.8:g.1172220T>C	NCBI36
NG_007460.2:g.36815T>C , LRG_319:g.36815T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.743T>C	ENSP00000490268.2:p.Ile248Thr
ENST00000585748.3:c.371T>C	ENSP00000477641.2:p.Ile124Thr
ENST00000585851.2:c.569T>C	ENSP00000467912.2:p.Ile190Thr
ENST00000326873.12:c.743T>C MANE Select	ENSP00000324856.6:p.Ile248Thr
ENST00000652231.1:c.743T>C	ENSP00000498804.1:p.Ile248Thr
ENST00000326873.11:c.743T>C	ENSP00000324856.6:p.Ile248Thr
ENST00000586243.5:c.743T>C	ENSP00000467240.2:p.Ile248Thr
ENST00000586358.5:n.641T>C
ENST00000589152.5:n.833T>C
ENST00000591133.2:n.714T>C
NM_000455.4:c.743T>C , LRG_319t1:c.743T>C	NP_000446.1:p.Ile248Thr
XM_005259617.1:c.743T>C	XP_005259674.1:p.Ile248Thr
XM_005259618.3:c.743T>C	XP_005259675.1:p.Ile248Thr
XM_011528209.1:c.521T>C	XP_011526511.1:p.Ile174Thr
XR_936204.1:n.1368T>C
XM_005259617.3:c.743T>C	XP_005259674.1:p.Ile248Thr
XM_011528209.2:c.521T>C	XP_011526511.1:p.Ile174Thr
XR_001753738.2:n.1368T>C
XR_001753739.1:n.1368T>C
XR_001753740.2:n.1368T>C
NM_000455.5:c.743T>C MANE Select	NP_000446.1:p.Ile248Thr