Canonical Allele Identifier: CA402954046

Gene: STK11

Linked Data

• dbSNP Id: rs969257745
• gnomAD v2: 19-1226599-T-C
• gnomAD v3: 19-1226600-T-C
• gnomAD v4: 19-1226600-T-C
• MyVariant Identifiers: chr19:g.1226599T>C (hg19) ; chr19:g.1226600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226600T>C , CM000681.2:g.1226600T>C	GRCh38
NC_000019.9:g.1226599T>C , CM000681.1:g.1226599T>C	GRCh37
NC_000019.8:g.1177599T>C	NCBI36
NG_007460.2:g.42194T>C , LRG_319:g.42194T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2856T>C	ENSP00000490268.2:n.*2856T>C
ENST00000585748.3:c.883T>C	ENSP00000477641.2:p.Ser295Pro
ENST00000585851.2:c.1081T>C	ENSP00000467912.2:p.Ser361Pro
ENST00000326873.12:c.1255T>C MANE Select	ENSP00000324856.6:p.Ser419Pro
ENST00000326873.11:c.1255T>C	ENSP00000324856.6:p.Ser419Pro
ENST00000585465.2:n.2988T>C
ENST00000586243.5:c.1254T>C	ENSP00000467240.2:p.Ala418=
ENST00000589152.5:n.1953T>C
NM_000455.4:c.1255T>C , LRG_319t1:c.1255T>C	NP_000446.1:p.Ser419Pro
XM_005259617.1:c.1250T>C	XP_005259674.1:p.Leu417Pro
XM_011528209.1:c.1028T>C	XP_011526511.1:p.Leu343Pro
XM_005259617.3:c.1250T>C	XP_005259674.1:p.Leu417Pro
XM_011528209.2:c.1028T>C	XP_011526511.1:p.Leu343Pro
XR_001753738.2:n.2061T>C
XR_001753740.2:n.2031T>C
NM_000455.5:c.1255T>C MANE Select	NP_000446.1:p.Ser419Pro