Canonical Allele Identifier: CA10583794

Gene: STK11

Linked Data

• ClinVar Variation Id: 237793
• ClinVar RCV Id: RCV000231843 ; RCV001184074 ; RCV001753688 ; RCV003492000
• dbSNP Id: rs878853986
• gnomAD v4: 19-1226598-G-C
• MyVariant Identifiers: chr19:g.1226597G>C (hg19) ; chr19:g.1226598G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226598G>C , CM000681.2:g.1226598G>C	GRCh38
NC_000019.9:g.1226597G>C , CM000681.1:g.1226597G>C	GRCh37
NC_000019.8:g.1177597G>C	NCBI36
NG_007460.2:g.42192G>C , LRG_319:g.42192G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2854G>C	ENSP00000490268.2:n.*2854G>C
ENST00000585748.3:c.881G>C	ENSP00000477641.2:p.Cys294Ser
ENST00000585851.2:c.1079G>C	ENSP00000467912.2:p.Cys360Ser
ENST00000326873.12:c.1253G>C MANE Select	ENSP00000324856.6:p.Cys418Ser
ENST00000326873.11:c.1253G>C	ENSP00000324856.6:p.Cys418Ser
ENST00000585465.2:n.2986G>C
ENST00000586243.5:c.1252G>C	ENSP00000467240.2:p.Ala418Pro
ENST00000589152.5:n.1951G>C
NM_000455.4:c.1253G>C , LRG_319t1:c.1253G>C	NP_000446.1:p.Cys418Ser
XM_005259617.1:c.1248G>C	XP_005259674.1:p.Leu416=
XM_011528209.1:c.1026G>C	XP_011526511.1:p.Leu342=
XM_005259617.3:c.1248G>C	XP_005259674.1:p.Leu416=
XM_011528209.2:c.1026G>C	XP_011526511.1:p.Leu342=
XR_001753738.2:n.2059G>C
XR_001753740.2:n.2029G>C
NM_000455.5:c.1253G>C MANE Select	NP_000446.1:p.Cys418Ser