Canonical Allele Identifier: CA049804

Gene: STK11

Linked Data

• ClinVar Variation Id: 237807
• ClinVar RCV Id: RCV000233618 ; RCV000833672 ; RCV001019503 ; RCV002469083
• dbSNP Id: rs755126393
• ExAC: 19:1223020 A / G
• gnomAD v2: 19-1223020-A-G
• gnomAD v3: 19-1223021-A-G
• gnomAD v4: 19-1223021-A-G
• MyVariant Identifiers: chr19:g.1223020A>G (hg19) ; chr19:g.1223021A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223021A>G , CM000681.2:g.1223021A>G	GRCh38
NC_000019.9:g.1223020A>G , CM000681.1:g.1223020A>G	GRCh37
NC_000019.8:g.1174020A>G	NCBI36
NG_007460.2:g.38615A>G , LRG_319:g.38615A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.957A>G	ENSP00000490268.2:p.Pro319=
ENST00000585748.3:c.585A>G	ENSP00000477641.2:p.Pro195=
ENST00000585851.2:c.783A>G	ENSP00000467912.2:p.Pro261=
ENST00000326873.12:c.957A>G MANE Select	ENSP00000324856.6:p.Pro319=
ENST00000652231.1:c.957A>G	ENSP00000498804.1:p.Pro319=
ENST00000326873.11:c.957A>G	ENSP00000324856.6:p.Pro319=
ENST00000586243.5:c.957A>G	ENSP00000467240.2:p.Pro319=
ENST00000589152.5:n.1655A>G
ENST00000591133.2:n.928A>G
NM_000455.4:c.957A>G , LRG_319t1:c.957A>G	NP_000446.1:p.Pro319=
XM_005259617.1:c.957A>G	XP_005259674.1:p.Pro319=
XM_005259618.3:c.957A>G	XP_005259675.1:p.Pro319=
XM_011528209.1:c.735A>G	XP_011526511.1:p.Pro245=
XR_936204.1:n.1733A>G
XM_005259617.3:c.957A>G	XP_005259674.1:p.Pro319=
XM_011528209.2:c.735A>G	XP_011526511.1:p.Pro245=
XR_001753738.2:n.1763A>G
XR_001753739.1:n.1763A>G
XR_001753740.2:n.1733A>G
NM_000455.5:c.957A>G MANE Select	NP_000446.1:p.Pro319=