Canonical Allele Identifier: CA350119

Gene: STK11

Linked Data

• ClinVar Variation Id: 220264
• ClinVar RCV Id: RCV000765435 ; RCV000759354 ; RCV000206057 ; RCV003468946 ; RCV000561859
• dbSNP Id: rs864622448
• gnomAD v3: 19-1226588-C-G
• gnomAD v4: 19-1226588-C-G
• MyVariant Identifiers: chr19:g.1226587C>G (hg19) ; chr19:g.1226588C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226588C>G , CM000681.2:g.1226588C>G	GRCh38
NC_000019.9:g.1226587C>G , CM000681.1:g.1226587C>G	GRCh37
NC_000019.8:g.1177587C>G	NCBI36
NG_007460.2:g.42182C>G , LRG_319:g.42182C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2844C>G	ENSP00000490268.2:n.*2844C>G
ENST00000585748.3:c.871C>G	ENSP00000477641.2:p.Arg291Gly
ENST00000585851.2:c.1069C>G	ENSP00000467912.2:p.Arg357Gly
ENST00000326873.12:c.1243C>G MANE Select	ENSP00000324856.6:p.Arg415Gly
ENST00000326873.11:c.1243C>G	ENSP00000324856.6:p.Arg415Gly
ENST00000585465.2:n.2976C>G
ENST00000586243.5:c.1242C>G	ENSP00000467240.2:p.Pro414=
ENST00000589152.5:n.1941C>G
NM_000455.4:c.1243C>G , LRG_319t1:c.1243C>G	NP_000446.1:p.Arg415Gly
XM_005259617.1:c.1238C>G	XP_005259674.1:p.Pro413Arg
XM_011528209.1:c.1016C>G	XP_011526511.1:p.Pro339Arg
XM_005259617.3:c.1238C>G	XP_005259674.1:p.Pro413Arg
XM_011528209.2:c.1016C>G	XP_011526511.1:p.Pro339Arg
XR_001753738.2:n.2049C>G
XR_001753740.2:n.2019C>G
NM_000455.5:c.1243C>G MANE Select	NP_000446.1:p.Arg415Gly