Canonical Allele Identifier: CA2579268085

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874371G>C , CM000670.2:g.142874371G>C	GRCh38
NC_000008.10:g.143955787G>C , CM000670.1:g.143955787G>C	GRCh37
NC_000008.9:g.143952789G>C	NCBI36
NG_007954.1:g.10450C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.*2C>G (CYP11B1) MANE Select	ENSP00000292427.5:n.*2C>G
ENST00000292427.8:c.*2C>G (CYP11B1)	ENSP00000292427.4:n.*2C>G
ENST00000314111.4:n.1711C>G (CYP11B1)
ENST00000377675.3:c.*2C>G (CYP11B1)	ENSP00000366903.3:n.*2C>G
ENST00000517471.5:c.*2C>G (CYP11B1)	ENSP00000428043.1:n.*2C>G
ENST00000519285.5:c.548C>G (CYP11B1)	ENSP00000430144.1:n.548C>G
ENST00000522728.5:c.181+33146G>C (GML)	ENSP00000430799.1:n.181+33146G>C
NM_000497.3:c.*2C>G (CYP11B1)	NP_000488.3:n.*2C>G
NM_001026213.1:c.*2C>G (CYP11B1)	NP_001021384.1:n.*2C>G
XM_011516870.1:c.1752C>G (CYP11B1)	XP_011515172.1:p.Ile584Met
XM_011516871.1:c.1683C>G (CYP11B1)	XP_011515173.1:p.Ile561Met
XM_011516872.1:c.1674C>G (CYP11B1)	XP_011515174.1:p.Ile558Met
XM_011516873.1:c.*2C>G (CYP11B1)	XP_011515175.1:n.*2C>G
XM_011516874.1:c.*2C>G (CYP11B1)	XP_011515176.1:n.*2C>G
XM_011516875.1:c.1491C>G (CYP11B1)	XP_011515177.1:p.Ile497Met
XM_011516876.1:c.*2C>G (CYP11B1)	XP_011515178.1:n.*2C>G
XM_011516970.1:c.214+33146G>C (GML)	XP_011515272.1:n.214+33146G>C
NM_000497.4:c.*2C>G (CYP11B1) MANE Select	NP_000488.3:n.*2C>G