Canonical Allele Identifier: CA504708544

Gene: STK11

Linked Data

• ClinVar Variation Id: 1146011
• ClinVar RCV Id: RCV001485101
• dbSNP Id: rs2145436473
• gnomAD v4: 19-1226605-C-A
• MyVariant Identifiers: chr19:g.1226604C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226605C>A , CM000681.2:g.1226605C>A	GRCh38
NC_000019.9:g.1226604C>A , CM000681.1:g.1226604C>A	GRCh37
NC_000019.8:g.1177604C>A	NCBI36
NG_007460.2:g.42199C>A , LRG_319:g.42199C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2861C>A	ENSP00000490268.2:n.*2861C>A
ENST00000585748.3:c.888C>A	ENSP00000477641.2:p.Ala296=
ENST00000585851.2:c.1086C>A	ENSP00000467912.2:p.Ala362=
ENST00000326873.12:c.1260C>A MANE Select	ENSP00000324856.6:p.Ala420=
ENST00000326873.11:c.1260C>A	ENSP00000324856.6:p.Ala420=
ENST00000585465.2:n.2993C>A
ENST00000586243.5:c.1257C>A	ENSP00000467240.2:p.Ala419=
ENST00000589152.5:n.1958C>A
NM_000455.4:c.1260C>A , LRG_319t1:c.1260C>A	NP_000446.1:p.Ala420=
XM_005259617.1:c.1255C>A	XP_005259674.1:p.Gln419Lys
XM_011528209.1:c.1033C>A	XP_011526511.1:p.Gln345Lys
XM_005259617.3:c.1255C>A	XP_005259674.1:p.Gln419Lys
XM_011528209.2:c.1033C>A	XP_011526511.1:p.Gln345Lys
XR_001753738.2:n.2066C>A
XR_001753740.2:n.2036C>A
NM_000455.5:c.1260C>A MANE Select	NP_000446.1:p.Ala420=