Canonical Allele Identifier: CA048542

Gene: STK11

Linked Data

• ClinVar Variation Id: 577281
• ClinVar RCV Id: RCV001800856 ; RCV002369917
• dbSNP Id: rs587780721
• ExAC: 19:1220703 G / T
• gnomAD v2: 19-1220703-G-T
• gnomAD v3: 19-1220704-G-T
• gnomAD v4: 19-1220704-G-T
• MyVariant Identifiers: chr19:g.1220703G>T (hg19) ; chr19:g.1220704G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1220704G>T , CM000681.2:g.1220704G>T	GRCh38
NC_000019.9:g.1220703G>T , CM000681.1:g.1220703G>T	GRCh37
NC_000019.8:g.1171703G>T	NCBI36
NG_007460.2:g.36298G>T , LRG_319:g.36298G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.721G>T	ENSP00000490268.2:p.Ala241Ser
ENST00000585748.3:c.349G>T	ENSP00000477641.2:p.Ala117Ser
ENST00000585851.2:c.547G>T	ENSP00000467912.2:p.Ala183Ser
ENST00000326873.12:c.721G>T MANE Select	ENSP00000324856.6:p.Ala241Ser
ENST00000652231.1:c.721G>T	ENSP00000498804.1:p.Ala241Ser
ENST00000326873.11:c.721G>T	ENSP00000324856.6:p.Ala241Ser
ENST00000586243.5:c.721G>T	ENSP00000467240.2:p.Ala241Ser
ENST00000586358.5:n.619G>T
ENST00000589152.5:n.811G>T
ENST00000591133.2:n.692G>T
NM_000455.4:c.721G>T , LRG_319t1:c.721G>T	NP_000446.1:p.Ala241Ser
XM_005259617.1:c.721G>T	XP_005259674.1:p.Ala241Ser
XM_005259618.3:c.721G>T	XP_005259675.1:p.Ala241Ser
XM_011528209.1:c.499G>T	XP_011526511.1:p.Ala167Ser
XR_936204.1:n.1346G>T
XM_005259617.3:c.721G>T	XP_005259674.1:p.Ala241Ser
XM_011528209.2:c.499G>T	XP_011526511.1:p.Ala167Ser
XR_001753738.2:n.1346G>T
XR_001753739.1:n.1346G>T
XR_001753740.2:n.1346G>T
NM_000455.5:c.721G>T MANE Select	NP_000446.1:p.Ala241Ser