Canonical Allele Identifier: CA504708560

Gene: STK11

Linked Data

• ClinVar Variation Id: 818796
• ClinVar RCV Id: RCV001010750 ; RCV001395522
• dbSNP Id: rs369097329
• gnomAD v4: 19-1226629-G-T
• MyVariant Identifiers: chr19:g.1226628G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226629G>T , CM000681.2:g.1226629G>T	GRCh38
NC_000019.9:g.1226628G>T , CM000681.1:g.1226628G>T	GRCh37
NC_000019.8:g.1177628G>T	NCBI36
NG_007460.2:g.42223G>T , LRG_319:g.42223G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.*2885G>T	ENSP00000490268.2:n.*2885G>T
ENST00000585748.3:c.912G>T	ENSP00000477641.2:p.Ser304=
ENST00000585851.2:c.1110G>T	ENSP00000467912.2:p.Ser370=
ENST00000326873.12:c.1284G>T MANE Select	ENSP00000324856.6:p.Ser428=
ENST00000326873.11:c.1284G>T	ENSP00000324856.6:p.Ser428=
ENST00000585465.2:n.3017G>T
ENST00000586243.5:c.1281G>T	ENSP00000467240.2:p.Ser427=
ENST00000589152.5:n.1982G>T
NM_000455.4:c.1284G>T , LRG_319t1:c.1284G>T	NP_000446.1:p.Ser428=
XM_005259617.1:c.1279G>T	XP_005259674.1:p.Gly427Cys
XM_011528209.1:c.1057G>T	XP_011526511.1:p.Gly353Cys
XM_005259617.3:c.1279G>T	XP_005259674.1:p.Gly427Cys
XM_011528209.2:c.1057G>T	XP_011526511.1:p.Gly353Cys
XR_001753738.2:n.2090G>T
XR_001753740.2:n.2060G>T
NM_000455.5:c.1284G>T MANE Select	NP_000446.1:p.Ser428=