Canonical Allele Identifier: CA048715

Gene: STK11

Linked Data

• ClinVar Variation Id: 496867
• ClinVar RCV Id: RCV000596190 ; RCV001613391 ; RCV001809688
• dbSNP Id: rs115624397
• ExAC: 19:1220757 T / C
• gnomAD v2: 19-1220757-T-C
• gnomAD v3: 19-1220758-T-C
• gnomAD v4: 19-1220758-T-C
• MyVariant Identifiers: chr19:g.1220757T>C (hg19) ; chr19:g.1220758T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1220758T>C , CM000681.2:g.1220758T>C	GRCh38
NC_000019.9:g.1220757T>C , CM000681.1:g.1220757T>C	GRCh37
NC_000019.8:g.1171757T>C	NCBI36
NG_007460.2:g.36352T>C , LRG_319:g.36352T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.734+41T>C	ENSP00000490268.2:n.734+41T>C
ENST00000585748.3:c.362+41T>C	ENSP00000477641.2:n.362+41T>C
ENST00000585851.2:c.560+41T>C	ENSP00000467912.2:n.560+41T>C
ENST00000326873.12:c.734+41T>C MANE Select	ENSP00000324856.6:n.734+41T>C
ENST00000652231.1:c.734+41T>C	ENSP00000498804.1:n.734+41T>C
ENST00000326873.11:c.734+41T>C	ENSP00000324856.6:n.734+41T>C
ENST00000586243.5:c.734+41T>C	ENSP00000467240.2:n.734+41T>C
ENST00000586358.5:n.632+41T>C
ENST00000589152.5:n.824+41T>C
ENST00000591133.2:n.705+41T>C
NM_000455.4:c.734+41T>C , LRG_319t1:c.734+41T>C	NP_000446.1:n.734+41T>C
XM_005259617.1:c.734+41T>C	XP_005259674.1:n.734+41T>C
XM_005259618.3:c.734+41T>C	XP_005259675.1:n.734+41T>C
XM_011528209.1:c.512+41T>C	XP_011526511.1:n.512+41T>C
XR_936204.1:n.1359+41T>C
XM_005259617.3:c.734+41T>C	XP_005259674.1:n.734+41T>C
XM_011528209.2:c.512+41T>C	XP_011526511.1:n.512+41T>C
XR_001753738.2:n.1359+41T>C
XR_001753739.1:n.1359+41T>C
XR_001753740.2:n.1359+41T>C
NM_000455.5:c.734+41T>C MANE Select	NP_000446.1:n.734+41T>C