Canonical Allele Identifier: CA402944060

Gene: STK11

Linked Data

• ClinVar Variation Id: 819310
• ClinVar RCV Id: RCV001011752
• dbSNP Id: rs1599915047
• gnomAD v4: 19-1207059-A-T
• MyVariant Identifiers: chr19:g.1207058A>T (hg19) ; chr19:g.1207059A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1207059A>T , CM000681.2:g.1207059A>T	GRCh38
NC_000019.9:g.1207058A>T , CM000681.1:g.1207058A>T	GRCh37
NC_000019.8:g.1158058A>T	NCBI36
NG_007460.2:g.22653A>T , LRG_319:g.22653A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.146A>T	ENSP00000490268.2:p.Tyr49Phe
ENST00000585748.3:c.-82-11358A>T	ENSP00000477641.2:n.-82-11358A>T
ENST00000585851.2:c.146A>T	ENSP00000467912.2:p.Tyr49Phe
ENST00000326873.12:c.146A>T MANE Select	ENSP00000324856.6:p.Tyr49Phe
ENST00000652231.1:c.146A>T	ENSP00000498804.1:p.Tyr49Phe
ENST00000326873.11:c.146A>T	ENSP00000324856.6:p.Tyr49Phe
ENST00000585748.2:c.-82-11358A>T	ENSP00000477641.1:n.-82-11358A>T
ENST00000585851.1:c.146A>T	ENSP00000467912.1:p.Tyr49Phe
ENST00000586243.5:c.146A>T	ENSP00000467240.2:p.Tyr49Phe
ENST00000589152.5:n.236A>T
ENST00000593219.5:c.146A>T	ENSP00000466610.1:p.Tyr49Phe
NM_000455.4:c.146A>T , LRG_319t1:c.146A>T	NP_000446.1:p.Tyr49Phe
XM_005259617.1:c.146A>T	XP_005259674.1:p.Tyr49Phe
XM_005259618.3:c.146A>T	XP_005259675.1:p.Tyr49Phe
XM_011528209.1:c.-208A>T	XP_011526511.1:n.-208A>T
XR_936204.1:n.771A>T
XM_005259617.3:c.146A>T	XP_005259674.1:p.Tyr49Phe
XM_011528209.2:c.-208A>T	XP_011526511.1:n.-208A>T
XR_001753738.2:n.771A>T
XR_001753739.1:n.771A>T
XR_001753740.2:n.771A>T
NM_000455.5:c.146A>T MANE Select	NP_000446.1:p.Tyr49Phe