Canonical Allele Identifier: CA372390518

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs1816867057
• gnomAD v3: 8-142874380-A-G
• gnomAD v4: 8-142874380-A-G
• MyVariant Identifiers: chr8:g.143955796A>G (hg19) ; chr8:g.142874380A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874380A>G , CM000670.2:g.142874380A>G	GRCh38
NC_000008.10:g.143955796A>G , CM000670.1:g.143955796A>G	GRCh37
NC_000008.9:g.143952798A>G	NCBI36
NG_007954.1:g.10441T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1505T>C (CYP11B1) MANE Select	ENSP00000292427.5:p.Ile502Thr
ENST00000292427.8:c.1505T>C (CYP11B1)	ENSP00000292427.4:p.Ile502Thr
ENST00000314111.4:n.1702T>C (CYP11B1)
ENST00000377675.3:c.1718T>C (CYP11B1)	ENSP00000366903.3:p.Ile573Thr
ENST00000517471.5:c.1307T>C (CYP11B1)	ENSP00000428043.1:p.Ile436Thr
ENST00000519285.5:c.539T>C (CYP11B1)	ENSP00000430144.1:p.Ile180Thr
ENST00000522728.5:c.181+33155A>G (GML)	ENSP00000430799.1:n.181+33155A>G
NM_000497.3:c.1505T>C (CYP11B1)	NP_000488.3:p.Ile502Thr
NM_001026213.1:c.1307T>C (CYP11B1)	NP_001021384.1:p.Ile436Thr
XM_011516870.1:c.1743T>C (CYP11B1)	XP_011515172.1:p.His581=
XM_011516871.1:c.1674T>C (CYP11B1)	XP_011515173.1:p.His558=
XM_011516872.1:c.1665T>C (CYP11B1)	XP_011515174.1:p.His555=
XM_011516873.1:c.1652T>C (CYP11B1)	XP_011515175.1:p.Ile551Thr
XM_011516874.1:c.1583T>C (CYP11B1)	XP_011515176.1:p.Ile528Thr
XM_011516875.1:c.1482T>C (CYP11B1)	XP_011515177.1:p.His494=
XM_011516876.1:c.1454T>C (CYP11B1)	XP_011515178.1:p.Ile485Thr
XM_011516970.1:c.214+33155A>G (GML)	XP_011515272.1:n.214+33155A>G
NM_000497.4:c.1505T>C (CYP11B1) MANE Select	NP_000488.3:p.Ile502Thr