Canonical Allele Identifier: CA022619

Gene: STK11

Linked Data

• ClinVar Variation Id: 184420
• ClinVar RCV Id: RCV000163674 ; RCV001850289
• dbSNP Id: rs786201451
• gnomAD v4: 19-1226635-C-T
• MyVariant Identifiers: chr19:g.1226634C>T (hg19) ; chr19:g.1226635C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226635C>T , CM000681.2:g.1226635C>T	GRCh38
NC_000019.9:g.1226634C>T , CM000681.1:g.1226634C>T	GRCh37
NC_000019.8:g.1177634C>T	NCBI36
NG_007460.2:g.42229C>T , LRG_319:g.42229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2891C>T	ENSP00000490268.2:n.*2891C>T
ENST00000585748.3:c.918C>T	ENSP00000477641.2:p.Cys306=
ENST00000585851.2:c.1116C>T	ENSP00000467912.2:p.Cys372=
ENST00000326873.12:c.1290C>T MANE Select	ENSP00000324856.6:p.Cys430=
ENST00000326873.11:c.1290C>T	ENSP00000324856.6:p.Cys430=
ENST00000585465.2:n.3023C>T
ENST00000586243.5:c.1287C>T	ENSP00000467240.2:p.Cys429=
ENST00000589152.5:n.1988C>T
NM_000455.4:c.1290C>T , LRG_319t1:c.1290C>T	NP_000446.1:p.Cys430=
XM_005259617.1:c.1285C>T	XP_005259674.1:p.Gln429Ter
XM_011528209.1:c.1063C>T	XP_011526511.1:p.Gln355Ter
XM_005259617.3:c.1285C>T	XP_005259674.1:p.Gln429Ter
XM_011528209.2:c.1063C>T	XP_011526511.1:p.Gln355Ter
XR_001753738.2:n.2096C>T
XR_001753740.2:n.2066C>T
NM_000455.5:c.1290C>T MANE Select	NP_000446.1:p.Cys430=