Canonical Allele Identifier: CA372391138

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874487C>G , CM000670.2:g.142874487C>G	GRCh38
NC_000008.10:g.143955903C>G , CM000670.1:g.143955903C>G	GRCh37
NC_000008.9:g.143952905C>G	NCBI36
NG_007954.1:g.10334G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000497.4:c.1399-1G>C (CYP11B1) MANE Select	NP_000488.3:n.1399-1G>C
ENST00000292427.10:c.1399-1G>C (CYP11B1) MANE Select	ENSP00000292427.5:n.1399-1G>C
NM_000497.3:c.1399-1G>C (CYP11B1)	NP_000488.3:n.1399-1G>C
NM_001026213.1:c.1201-1G>C (CYP11B1)	NP_001021384.1:n.1201-1G>C
ENST00000292427.8:c.1399-1G>C (CYP11B1)	ENSP00000292427.4:n.1399-1G>C
ENST00000314111.4:n.1596-1G>C (CYP11B1)
ENST00000377675.3:c.1612-1G>C (CYP11B1)	ENSP00000366903.3:n.1612-1G>C
ENST00000517471.5:c.1201-1G>C (CYP11B1)	ENSP00000428043.1:n.1201-1G>C
ENST00000519285.5:c.433-1G>C (CYP11B1)	ENSP00000430144.1:n.433-1G>C
ENST00000522728.5:c.181+33262C>G (GML)	ENSP00000430799.1:n.181+33262C>G
XM_011516870.1:c.1636G>C (CYP11B1)	XP_011515172.1:p.Gly546Arg
XM_011516871.1:c.1567G>C (CYP11B1)	XP_011515173.1:p.Gly523Arg
XM_011516872.1:c.1558G>C (CYP11B1)	XP_011515174.1:p.Gly520Arg
XM_011516873.1:c.1546-1G>C (CYP11B1)	XP_011515175.1:n.1546-1G>C
XM_011516874.1:c.1477-1G>C (CYP11B1)	XP_011515176.1:n.1477-1G>C
XM_011516875.1:c.1375G>C (CYP11B1)	XP_011515177.1:p.Gly459Arg
XM_011516876.1:c.1348-1G>C (CYP11B1)	XP_011515178.1:n.1348-1G>C
XM_011516970.1:c.214+33262C>G (GML)	XP_011515272.1:n.214+33262C>G