Canonical Allele Identifier: CA046858

Gene: STK11

Linked Data

• dbSNP Id: rs749339056
• ExAC: 19:1207252 T / C
• gnomAD v2: 19-1207252-T-C
• gnomAD v3: 19-1207253-T-C
• gnomAD v4: 19-1207253-T-C
• MyVariant Identifiers: chr19:g.1207252T>C (hg19) ; chr19:g.1207253T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1207253T>C , CM000681.2:g.1207253T>C	GRCh38
NC_000019.9:g.1207252T>C , CM000681.1:g.1207252T>C	GRCh37
NC_000019.8:g.1158252T>C	NCBI36
NG_007460.2:g.22847T>C , LRG_319:g.22847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.290+50T>C	ENSP00000490268.2:n.290+50T>C
ENST00000585748.3:c.-82-11164T>C	ENSP00000477641.2:n.-82-11164T>C
ENST00000585851.2:c.290+50T>C	ENSP00000467912.2:n.290+50T>C
ENST00000326873.12:c.290+50T>C MANE Select	ENSP00000324856.6:n.290+50T>C
ENST00000652231.1:c.290+50T>C	ENSP00000498804.1:n.290+50T>C
ENST00000326873.11:c.290+50T>C	ENSP00000324856.6:n.290+50T>C
ENST00000585748.2:c.-82-11164T>C	ENSP00000477641.1:n.-82-11164T>C
ENST00000585851.1:c.290+50T>C	ENSP00000467912.1:n.290+50T>C
ENST00000586243.5:c.290+50T>C	ENSP00000467240.2:n.290+50T>C
ENST00000586358.5:n.113+50T>C
ENST00000589152.5:n.380+50T>C
ENST00000593219.5:c.290+50T>C	ENSP00000466610.1:n.290+50T>C
NM_000455.4:c.290+50T>C , LRG_319t1:c.290+50T>C	NP_000446.1:n.290+50T>C
XM_005259617.1:c.290+50T>C	XP_005259674.1:n.290+50T>C
XM_005259618.3:c.290+50T>C	XP_005259675.1:n.290+50T>C
XM_011528209.1:c.-64+50T>C	XP_011526511.1:n.-64+50T>C
XR_936204.1:n.915+50T>C
XM_005259617.3:c.290+50T>C	XP_005259674.1:n.290+50T>C
XM_011528209.2:c.-64+50T>C	XP_011526511.1:n.-64+50T>C
XR_001753738.2:n.915+50T>C
XR_001753739.1:n.915+50T>C
XR_001753740.2:n.915+50T>C
NM_000455.5:c.290+50T>C MANE Select	NP_000446.1:n.290+50T>C