Canonical Allele Identifier: CA022329

Gene: STK11

Linked Data

• ClinVar Variation Id: 127698
• ClinVar RCV Id: RCV000115594 ; RCV000205503 ; RCV000586344 ; RCV000855606 ; RCV003492475
• dbSNP Id: rs373888280
• ExAC: 19:1226471 A / C
• gnomAD v2: 19-1226471-A-C
• gnomAD v3: 19-1226472-A-C
• gnomAD v4: 19-1226472-A-C
• MyVariant Identifiers: chr19:g.1226471A>C (hg19) ; chr19:g.1226472A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226472A>C , CM000681.2:g.1226472A>C	GRCh38
NC_000019.9:g.1226471A>C , CM000681.1:g.1226471A>C	GRCh37
NC_000019.8:g.1177471A>C	NCBI36
NG_007460.2:g.42066A>C , LRG_319:g.42066A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2728A>C	ENSP00000490268.2:n.*2728A>C
ENST00000585748.3:c.755A>C	ENSP00000477641.2:p.Glu252Ala
ENST00000585851.2:c.953A>C	ENSP00000467912.2:p.Glu318Ala
ENST00000326873.12:c.1127A>C MANE Select	ENSP00000324856.6:p.Glu376Ala
ENST00000326873.11:c.1127A>C	ENSP00000324856.6:p.Glu376Ala
ENST00000585465.2:n.2860A>C
ENST00000586243.5:c.1127A>C	ENSP00000467240.2:p.Glu376Ala
ENST00000589152.5:n.1825A>C
NM_000455.4:c.1127A>C , LRG_319t1:c.1127A>C	NP_000446.1:p.Glu376Ala
XM_005259617.1:c.1122A>C	XP_005259674.1:p.Gly374=
XM_011528209.1:c.900A>C	XP_011526511.1:p.Gly300=
XM_005259617.3:c.1122A>C	XP_005259674.1:p.Gly374=
XM_011528209.2:c.900A>C	XP_011526511.1:p.Gly300=
XR_001753738.2:n.1933A>C
XR_001753740.2:n.1903A>C
NM_000455.5:c.1127A>C MANE Select	NP_000446.1:p.Glu376Ala