Canonical Allele Identifier: CA372391457

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875013G>A , CM000670.2:g.142875013G>A	GRCh38
NC_000008.10:g.143956429G>A , CM000670.1:g.143956429G>A	GRCh37
NC_000008.9:g.143953431G>A	NCBI36
NG_007954.1:g.9808C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000497.4:c.1342C>T (CYP11B1) MANE Select	NP_000488.3:p.Arg448Cys
ENST00000292427.10:c.1342C>T (CYP11B1) MANE Select	ENSP00000292427.5:p.Arg448Cys
NM_000497.3:c.1342C>T (CYP11B1)	NP_000488.3:p.Arg448Cys
NM_001026213.1:c.1200+221C>T (CYP11B1)	NP_001021384.1:n.1200+221C>T
ENST00000292427.8:c.1342C>T (CYP11B1)	ENSP00000292427.4:p.Arg448Cys
ENST00000314111.4:n.1595+221C>T (CYP11B1)
ENST00000377675.3:c.1555C>T (CYP11B1)	ENSP00000366903.3:p.Arg519Cys
ENST00000517471.5:c.1200+221C>T (CYP11B1)	ENSP00000428043.1:n.1200+221C>T
ENST00000519285.5:c.376C>T (CYP11B1)	ENSP00000430144.1:p.Arg126Cys
ENST00000522728.5:c.181+33788G>A (GML)	ENSP00000430799.1:n.181+33788G>A
XM_011516870.1:c.1489C>T (CYP11B1)	XP_011515172.1:p.Arg497Cys
XM_011516871.1:c.1420C>T (CYP11B1)	XP_011515173.1:p.Arg474Cys
XM_011516872.1:c.1411C>T (CYP11B1)	XP_011515174.1:p.Arg471Cys
XM_011516873.1:c.1489C>T (CYP11B1)	XP_011515175.1:p.Arg497Cys
XM_011516874.1:c.1420C>T (CYP11B1)	XP_011515176.1:p.Arg474Cys
XM_011516875.1:c.1228C>T (CYP11B1)	XP_011515177.1:p.Arg410Cys
XM_011516876.1:c.1347+221C>T (CYP11B1)	XP_011515178.1:n.1347+221C>T
XM_011516970.1:c.214+33788G>A (GML)	XP_011515272.1:n.214+33788G>A