Canonical Allele Identifier: CA10583795

Gene: STK11

Linked Data

• ClinVar Variation Id: 237795
• ClinVar RCV Id: RCV000232291 ; RCV000580436
• dbSNP Id: rs752699287
• gnomAD v4: 19-1226622-G-C
• MyVariant Identifiers: chr19:g.1226621G>C (hg19) ; chr19:g.1226622G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226622G>C , CM000681.2:g.1226622G>C	GRCh38
NC_000019.9:g.1226621G>C , CM000681.1:g.1226621G>C	GRCh37
NC_000019.8:g.1177621G>C	NCBI36
NG_007460.2:g.42216G>C , LRG_319:g.42216G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2878G>C	ENSP00000490268.2:n.*2878G>C
ENST00000585748.3:c.905G>C	ENSP00000477641.2:p.Arg302Pro
ENST00000585851.2:c.1103G>C	ENSP00000467912.2:p.Arg368Pro
ENST00000326873.12:c.1277G>C MANE Select	ENSP00000324856.6:p.Arg426Pro
ENST00000326873.11:c.1277G>C	ENSP00000324856.6:p.Arg426Pro
ENST00000585465.2:n.3010G>C
ENST00000586243.5:c.1274G>C	ENSP00000467240.2:p.Arg425Pro
ENST00000589152.5:n.1975G>C
NM_000455.4:c.1277G>C , LRG_319t1:c.1277G>C	NP_000446.1:p.Arg426Pro
XM_005259617.1:c.1272G>C	XP_005259674.1:p.Pro424=
XM_011528209.1:c.1050G>C	XP_011526511.1:p.Pro350=
XM_005259617.3:c.1272G>C	XP_005259674.1:p.Pro424=
XM_011528209.2:c.1050G>C	XP_011526511.1:p.Pro350=
XR_001753738.2:n.2083G>C
XR_001753740.2:n.2053G>C
NM_000455.5:c.1277G>C MANE Select	NP_000446.1:p.Arg426Pro