Canonical Allele Identifier: CA1120117872

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs1816959075
• gnomAD v3: 8-142876604-C-T
• gnomAD v4: 8-142876604-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876604C>T , CM000670.2:g.142876604C>T	GRCh38
NC_000008.10:g.143958020C>T , CM000670.1:g.143958020C>T	GRCh37
NC_000008.9:g.143955022C>T	NCBI36
NG_007954.1:g.8217G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.799+78G>A (CYP11B1) MANE Select	ENSP00000292427.5:n.799+78G>A
ENST00000292427.8:c.799+78G>A (CYP11B1)	ENSP00000292427.4:n.799+78G>A
ENST00000314111.4:n.832+78G>A (CYP11B1)
ENST00000377675.3:c.1012+78G>A (CYP11B1)	ENSP00000366903.3:n.1012+78G>A
ENST00000517471.5:c.799+78G>A (CYP11B1)	ENSP00000428043.1:n.799+78G>A
ENST00000522728.5:c.181+35379C>T (GML)	ENSP00000430799.1:n.181+35379C>T
NM_000497.3:c.799+78G>A (CYP11B1)	NP_000488.3:n.799+78G>A
NM_001026213.1:c.799+78G>A (CYP11B1)	NP_001021384.1:n.799+78G>A
XM_011516870.1:c.877+78G>A (CYP11B1)	XP_011515172.1:n.877+78G>A
XM_011516871.1:c.877+78G>A (CYP11B1)	XP_011515173.1:n.877+78G>A
XM_011516872.1:c.799+78G>A (CYP11B1)	XP_011515174.1:n.799+78G>A
XM_011516873.1:c.877+78G>A (CYP11B1)	XP_011515175.1:n.877+78G>A
XM_011516874.1:c.877+78G>A (CYP11B1)	XP_011515176.1:n.877+78G>A
XM_011516875.1:c.616+78G>A (CYP11B1)	XP_011515177.1:n.616+78G>A
XM_011516876.1:c.877+78G>A (CYP11B1)	XP_011515178.1:n.877+78G>A
XM_011516970.1:c.214+35379C>T (GML)	XP_011515272.1:n.214+35379C>T
NM_000497.4:c.799+78G>A (CYP11B1) MANE Select	NP_000488.3:n.799+78G>A