Canonical Allele Identifier: CA402948829

Gene: STK11

Linked Data

• ClinVar Variation Id: 428774
• ClinVar RCV Id: RCV000492167 ; RCV000522813 ; RCV001809447
• dbSNP Id: rs1131690938
• MyVariant Identifiers: chr19:g.1220388A>T (hg19) ; chr19:g.1220389A>T (hg38)
• PubMed: PMID:23718779

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1220389A>T , CM000681.2:g.1220389A>T	GRCh38
NC_000019.9:g.1220388A>T , CM000681.1:g.1220388A>T	GRCh37
NC_000019.8:g.1171388A>T	NCBI36
NG_007460.2:g.35983A>T , LRG_319:g.35983A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.481A>T	ENSP00000490268.2:p.Ile161Phe
ENST00000585748.3:c.109A>T	ENSP00000477641.2:p.Ile37Phe
ENST00000585851.2:c.307A>T	ENSP00000467912.2:p.Ile103Phe
ENST00000326873.12:c.481A>T MANE Select	ENSP00000324856.6:p.Ile161Phe
ENST00000652231.1:c.481A>T	ENSP00000498804.1:p.Ile161Phe
ENST00000326873.11:c.481A>T	ENSP00000324856.6:p.Ile161Phe
ENST00000585851.1:c.307A>T	ENSP00000467912.1:p.Ile103Phe
ENST00000586243.5:c.481A>T	ENSP00000467240.2:p.Ile161Phe
ENST00000586358.5:n.304A>T
ENST00000589152.5:n.571A>T
ENST00000591133.2:n.377A>T
NM_000455.4:c.481A>T , LRG_319t1:c.481A>T	NP_000446.1:p.Ile161Phe
XM_005259617.1:c.481A>T	XP_005259674.1:p.Ile161Phe
XM_005259618.3:c.481A>T	XP_005259675.1:p.Ile161Phe
XM_011528209.1:c.259A>T	XP_011526511.1:p.Ile87Phe
XR_936204.1:n.1106A>T
XM_005259617.3:c.481A>T	XP_005259674.1:p.Ile161Phe
XM_011528209.2:c.259A>T	XP_011526511.1:p.Ile87Phe
XR_001753738.2:n.1106A>T
XR_001753739.1:n.1106A>T
XR_001753740.2:n.1106A>T
NM_000455.5:c.481A>T MANE Select	NP_000446.1:p.Ile161Phe