Canonical Allele Identifier: CA372390908

Gene: CYP11B1 GML

Linked Data

• MyVariant Identifiers: chr8:g.143955857T>C (hg19) ; chr8:g.142874441T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874441T>C , CM000670.2:g.142874441T>C	GRCh38
NC_000008.10:g.143955857T>C , CM000670.1:g.143955857T>C	GRCh37
NC_000008.9:g.143952859T>C	NCBI36
NG_007954.1:g.10380A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1444A>G (CYP11B1) MANE Select	ENSP00000292427.5:p.Lys482Glu
ENST00000292427.8:c.1444A>G (CYP11B1)	ENSP00000292427.4:p.Lys482Glu
ENST00000314111.4:n.1641A>G (CYP11B1)
ENST00000377675.3:c.1657A>G (CYP11B1)	ENSP00000366903.3:p.Lys553Glu
ENST00000517471.5:c.1246A>G (CYP11B1)	ENSP00000428043.1:p.Lys416Glu
ENST00000519285.5:c.478A>G (CYP11B1)	ENSP00000430144.1:p.Lys160Glu
ENST00000522728.5:c.181+33216T>C (GML)	ENSP00000430799.1:n.181+33216T>C
NM_000497.3:c.1444A>G (CYP11B1)	NP_000488.3:p.Lys482Glu
NM_001026213.1:c.1246A>G (CYP11B1)	NP_001021384.1:p.Lys416Glu
XM_011516870.1:c.1682A>G (CYP11B1)	XP_011515172.1:p.Lys561Arg
XM_011516871.1:c.1613A>G (CYP11B1)	XP_011515173.1:p.Lys538Arg
XM_011516872.1:c.1604A>G (CYP11B1)	XP_011515174.1:p.Lys535Arg
XM_011516873.1:c.1591A>G (CYP11B1)	XP_011515175.1:p.Lys531Glu
XM_011516874.1:c.1522A>G (CYP11B1)	XP_011515176.1:p.Lys508Glu
XM_011516875.1:c.1421A>G (CYP11B1)	XP_011515177.1:p.Lys474Arg
XM_011516876.1:c.1393A>G (CYP11B1)	XP_011515178.1:p.Lys465Glu
XM_011516970.1:c.214+33216T>C (GML)	XP_011515272.1:n.214+33216T>C
NM_000497.4:c.1444A>G (CYP11B1) MANE Select	NP_000488.3:p.Lys482Glu