Canonical Allele Identifier: CA372390915

Gene: CYP11B1 GML

Linked Data

• gnomAD v4: 8-142874443-A-T
• MyVariant Identifiers: chr8:g.143955859A>T (hg19) ; chr8:g.142874443A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874443A>T , CM000670.2:g.142874443A>T	GRCh38
NC_000008.10:g.143955859A>T , CM000670.1:g.143955859A>T	GRCh37
NC_000008.9:g.143952861A>T	NCBI36
NG_007954.1:g.10378T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1442T>A (CYP11B1) MANE Select	ENSP00000292427.5:p.Ile481Lys
ENST00000292427.8:c.1442T>A (CYP11B1)	ENSP00000292427.4:p.Ile481Lys
ENST00000314111.4:n.1639T>A (CYP11B1)
ENST00000377675.3:c.1655T>A (CYP11B1)	ENSP00000366903.3:p.Ile552Lys
ENST00000517471.5:c.1244T>A (CYP11B1)	ENSP00000428043.1:p.Ile415Lys
ENST00000519285.5:c.476T>A (CYP11B1)	ENSP00000430144.1:p.Ile159Lys
ENST00000522728.5:c.181+33218A>T (GML)	ENSP00000430799.1:n.181+33218A>T
NM_000497.3:c.1442T>A (CYP11B1)	NP_000488.3:p.Ile481Lys
NM_001026213.1:c.1244T>A (CYP11B1)	NP_001021384.1:p.Ile415Lys
XM_011516870.1:c.1680T>A (CYP11B1)	XP_011515172.1:p.His560Gln
XM_011516871.1:c.1611T>A (CYP11B1)	XP_011515173.1:p.His537Gln
XM_011516872.1:c.1602T>A (CYP11B1)	XP_011515174.1:p.His534Gln
XM_011516873.1:c.1589T>A (CYP11B1)	XP_011515175.1:p.Ile530Lys
XM_011516874.1:c.1520T>A (CYP11B1)	XP_011515176.1:p.Ile507Lys
XM_011516875.1:c.1419T>A (CYP11B1)	XP_011515177.1:p.His473Gln
XM_011516876.1:c.1391T>A (CYP11B1)	XP_011515178.1:p.Ile464Lys
XM_011516970.1:c.214+33218A>T (GML)	XP_011515272.1:n.214+33218A>T
NM_000497.4:c.1442T>A (CYP11B1) MANE Select	NP_000488.3:p.Ile481Lys