Canonical Allele Identifier: CA372390921

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs1816868519
• gnomAD v4: 8-142874444-T-C
• MyVariant Identifiers: chr8:g.143955860T>C (hg19) ; chr8:g.142874444T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874444T>C , CM000670.2:g.142874444T>C	GRCh38
NC_000008.10:g.143955860T>C , CM000670.1:g.143955860T>C	GRCh37
NC_000008.9:g.143952862T>C	NCBI36
NG_007954.1:g.10377A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1441A>G (CYP11B1) MANE Select	ENSP00000292427.5:p.Ile481Val
ENST00000292427.8:c.1441A>G (CYP11B1)	ENSP00000292427.4:p.Ile481Val
ENST00000314111.4:n.1638A>G (CYP11B1)
ENST00000377675.3:c.1654A>G (CYP11B1)	ENSP00000366903.3:p.Ile552Val
ENST00000517471.5:c.1243A>G (CYP11B1)	ENSP00000428043.1:p.Ile415Val
ENST00000519285.5:c.475A>G (CYP11B1)	ENSP00000430144.1:p.Ile159Val
ENST00000522728.5:c.181+33219T>C (GML)	ENSP00000430799.1:n.181+33219T>C
NM_000497.3:c.1441A>G (CYP11B1)	NP_000488.3:p.Ile481Val
NM_001026213.1:c.1243A>G (CYP11B1)	NP_001021384.1:p.Ile415Val
XM_011516870.1:c.1679A>G (CYP11B1)	XP_011515172.1:p.His560Arg
XM_011516871.1:c.1610A>G (CYP11B1)	XP_011515173.1:p.His537Arg
XM_011516872.1:c.1601A>G (CYP11B1)	XP_011515174.1:p.His534Arg
XM_011516873.1:c.1588A>G (CYP11B1)	XP_011515175.1:p.Ile530Val
XM_011516874.1:c.1519A>G (CYP11B1)	XP_011515176.1:p.Ile507Val
XM_011516875.1:c.1418A>G (CYP11B1)	XP_011515177.1:p.His473Arg
XM_011516876.1:c.1390A>G (CYP11B1)	XP_011515178.1:p.Ile464Val
XM_011516970.1:c.214+33219T>C (GML)	XP_011515272.1:n.214+33219T>C
NM_000497.4:c.1441A>G (CYP11B1) MANE Select	NP_000488.3:p.Ile481Val