Canonical Allele Identifier: CA402953554

Gene: STK11

Linked Data

• ClinVar Variation Id: 573206
• ClinVar RCV Id: RCV000694814 ; RCV001010156
• dbSNP Id: rs863224360
• gnomAD v4: 19-1226524-C-G
• MyVariant Identifiers: chr19:g.1226523C>G (hg19) ; chr19:g.1226524C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226524C>G , CM000681.2:g.1226524C>G	GRCh38
NC_000019.9:g.1226523C>G , CM000681.1:g.1226523C>G	GRCh37
NC_000019.8:g.1177523C>G	NCBI36
NG_007460.2:g.42118C>G , LRG_319:g.42118C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2780C>G	ENSP00000490268.2:n.*2780C>G
ENST00000585748.3:c.807C>G	ENSP00000477641.2:p.Asn269Lys
ENST00000585851.2:c.1005C>G	ENSP00000467912.2:p.Asn335Lys
ENST00000326873.12:c.1179C>G MANE Select	ENSP00000324856.6:p.Asn393Lys
ENST00000326873.11:c.1179C>G	ENSP00000324856.6:p.Asn393Lys
ENST00000585465.2:n.2912C>G
ENST00000586243.5:c.1179C>G	ENSP00000467240.2:p.Asn393Lys
ENST00000589152.5:n.1877C>G
NM_000455.4:c.1179C>G , LRG_319t1:c.1179C>G	NP_000446.1:p.Asn393Lys
XM_005259617.1:c.1174C>G	XP_005259674.1:p.Arg392Gly
XM_011528209.1:c.952C>G	XP_011526511.1:p.Arg318Gly
XM_005259617.3:c.1174C>G	XP_005259674.1:p.Arg392Gly
XM_011528209.2:c.952C>G	XP_011526511.1:p.Arg318Gly
XR_001753738.2:n.1985C>G
XR_001753740.2:n.1955C>G
NM_000455.5:c.1179C>G MANE Select	NP_000446.1:p.Asn393Lys