Canonical Allele Identifier: CA022557

Gene: STK11

Linked Data

• ClinVar Variation Id: 182890
• ClinVar RCV Id: RCV000160983 ; RCV000213040 ; RCV000589957 ; RCV001083993 ; RCV003952801
• dbSNP Id: rs375328708
• ExAC: 19:1226601 C / T
• gnomAD v2: 19-1226601-C-T
• gnomAD v3: 19-1226602-C-T
• gnomAD v4: 19-1226602-C-T
• COSMIC: COSM20956
• MyVariant Identifiers: chr19:g.1226601C>T (hg19) ; chr19:g.1226602C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226602C>T , CM000681.2:g.1226602C>T	GRCh38
NC_000019.9:g.1226601C>T , CM000681.1:g.1226601C>T	GRCh37
NC_000019.8:g.1177601C>T	NCBI36
NG_007460.2:g.42196C>T , LRG_319:g.42196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2858C>T	ENSP00000490268.2:n.*2858C>T
ENST00000585748.3:c.885C>T	ENSP00000477641.2:p.Ser295=
ENST00000585851.2:c.1083C>T	ENSP00000467912.2:p.Ser361=
ENST00000326873.12:c.1257C>T MANE Select	ENSP00000324856.6:p.Ser419=
ENST00000326873.11:c.1257C>T	ENSP00000324856.6:p.Ser419=
ENST00000585465.2:n.2990C>T
ENST00000586243.5:c.1255-1C>T	ENSP00000467240.2:n.1255-1C>T
ENST00000589152.5:n.1955C>T
NM_000455.4:c.1257C>T , LRG_319t1:c.1257C>T	NP_000446.1:p.Ser419=
XM_005259617.1:c.1252C>T	XP_005259674.1:p.Arg418Cys
XM_011528209.1:c.1030C>T	XP_011526511.1:p.Arg344Cys
XM_005259617.3:c.1252C>T	XP_005259674.1:p.Arg418Cys
XM_011528209.2:c.1030C>T	XP_011526511.1:p.Arg344Cys
XR_001753738.2:n.2063C>T
XR_001753740.2:n.2033C>T
NM_000455.5:c.1257C>T MANE Select	NP_000446.1:p.Ser419=