Canonical Allele Identifier: CA372391389

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874997C>T , CM000670.2:g.142874997C>T	GRCh38
NC_000008.10:g.143956413C>T , CM000670.1:g.143956413C>T	GRCh37
NC_000008.9:g.143953415C>T	NCBI36
NG_007954.1:g.9824G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000497.4:c.1358G>A (CYP11B1) MANE Select	NP_000488.3:p.Arg453Gln
ENST00000292427.10:c.1358G>A (CYP11B1) MANE Select	ENSP00000292427.5:p.Arg453Gln
NM_000497.3:c.1358G>A (CYP11B1)	NP_000488.3:p.Arg453Gln
NM_001026213.1:c.1200+237G>A (CYP11B1)	NP_001021384.1:n.1200+237G>A
ENST00000292427.8:c.1358G>A (CYP11B1)	ENSP00000292427.4:p.Arg453Gln
ENST00000314111.4:n.1595+237G>A (CYP11B1)
ENST00000377675.3:c.1571G>A (CYP11B1)	ENSP00000366903.3:p.Arg524Gln
ENST00000517471.5:c.1200+237G>A (CYP11B1)	ENSP00000428043.1:n.1200+237G>A
ENST00000519285.5:c.392G>A (CYP11B1)	ENSP00000430144.1:p.Arg131Gln
ENST00000522728.5:c.181+33772C>T (GML)	ENSP00000430799.1:n.181+33772C>T
XM_011516870.1:c.1505G>A (CYP11B1)	XP_011515172.1:p.Arg502Gln
XM_011516871.1:c.1436G>A (CYP11B1)	XP_011515173.1:p.Arg479Gln
XM_011516872.1:c.1427G>A (CYP11B1)	XP_011515174.1:p.Arg476Gln
XM_011516873.1:c.1505G>A (CYP11B1)	XP_011515175.1:p.Arg502Gln
XM_011516874.1:c.1436G>A (CYP11B1)	XP_011515176.1:p.Arg479Gln
XM_011516875.1:c.1244G>A (CYP11B1)	XP_011515177.1:p.Arg415Gln
XM_011516876.1:c.1347+237G>A (CYP11B1)	XP_011515178.1:n.1347+237G>A
XM_011516970.1:c.214+33772C>T (GML)	XP_011515272.1:n.214+33772C>T