Canonical Allele Identifier: CA372391375

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874994C>G , CM000670.2:g.142874994C>G	GRCh38
NC_000008.10:g.143956410C>G , CM000670.1:g.143956410C>G	GRCh37
NC_000008.9:g.143953412C>G	NCBI36
NG_007954.1:g.9827G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000497.4:c.1361G>C (CYP11B1) MANE Select	NP_000488.3:p.Arg454Pro
ENST00000292427.10:c.1361G>C (CYP11B1) MANE Select	ENSP00000292427.5:p.Arg454Pro
NM_000497.3:c.1361G>C (CYP11B1)	NP_000488.3:p.Arg454Pro
NM_001026213.1:c.1200+240G>C (CYP11B1)	NP_001021384.1:n.1200+240G>C
ENST00000292427.8:c.1361G>C (CYP11B1)	ENSP00000292427.4:p.Arg454Pro
ENST00000314111.4:n.1595+240G>C (CYP11B1)
ENST00000377675.3:c.1574G>C (CYP11B1)	ENSP00000366903.3:p.Arg525Pro
ENST00000517471.5:c.1200+240G>C (CYP11B1)	ENSP00000428043.1:n.1200+240G>C
ENST00000519285.5:c.395G>C (CYP11B1)	ENSP00000430144.1:p.Arg132Pro
ENST00000522728.5:c.181+33769C>G (GML)	ENSP00000430799.1:n.181+33769C>G
XM_011516870.1:c.1508G>C (CYP11B1)	XP_011515172.1:p.Arg503Pro
XM_011516871.1:c.1439G>C (CYP11B1)	XP_011515173.1:p.Arg480Pro
XM_011516872.1:c.1430G>C (CYP11B1)	XP_011515174.1:p.Arg477Pro
XM_011516873.1:c.1508G>C (CYP11B1)	XP_011515175.1:p.Arg503Pro
XM_011516874.1:c.1439G>C (CYP11B1)	XP_011515176.1:p.Arg480Pro
XM_011516875.1:c.1247G>C (CYP11B1)	XP_011515177.1:p.Arg416Pro
XM_011516876.1:c.1347+240G>C (CYP11B1)	XP_011515178.1:n.1347+240G>C
XM_011516970.1:c.214+33769C>G (GML)	XP_011515272.1:n.214+33769C>G