Canonical Allele Identifier: CA372390889

Gene: CYP11B1 GML

Linked Data

• gnomAD v4: 8-142874437-A-G
• MyVariant Identifiers: chr8:g.143955853A>G (hg19) ; chr8:g.142874437A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874437A>G , CM000670.2:g.142874437A>G	GRCh38
NC_000008.10:g.143955853A>G , CM000670.1:g.143955853A>G	GRCh37
NC_000008.9:g.143952855A>G	NCBI36
NG_007954.1:g.10384T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1448T>C (CYP11B1) MANE Select	ENSP00000292427.5:p.Met483Thr
ENST00000292427.8:c.1448T>C (CYP11B1)	ENSP00000292427.4:p.Met483Thr
ENST00000314111.4:n.1645T>C (CYP11B1)
ENST00000377675.3:c.1661T>C (CYP11B1)	ENSP00000366903.3:p.Met554Thr
ENST00000517471.5:c.1250T>C (CYP11B1)	ENSP00000428043.1:p.Met417Thr
ENST00000519285.5:c.482T>C (CYP11B1)	ENSP00000430144.1:p.Met161Thr
ENST00000522728.5:c.181+33212A>G (GML)	ENSP00000430799.1:n.181+33212A>G
NM_000497.3:c.1448T>C (CYP11B1)	NP_000488.3:p.Met483Thr
NM_001026213.1:c.1250T>C (CYP11B1)	NP_001021384.1:p.Met417Thr
XM_011516870.1:c.1686T>C (CYP11B1)	XP_011515172.1:p.Asp562=
XM_011516871.1:c.1617T>C (CYP11B1)	XP_011515173.1:p.Asp539=
XM_011516872.1:c.1608T>C (CYP11B1)	XP_011515174.1:p.Asp536=
XM_011516873.1:c.1595T>C (CYP11B1)	XP_011515175.1:p.Met532Thr
XM_011516874.1:c.1526T>C (CYP11B1)	XP_011515176.1:p.Met509Thr
XM_011516875.1:c.1425T>C (CYP11B1)	XP_011515177.1:p.Asp475=
XM_011516876.1:c.1397T>C (CYP11B1)	XP_011515178.1:p.Met466Thr
XM_011516970.1:c.214+33212A>G (GML)	XP_011515272.1:n.214+33212A>G
NM_000497.4:c.1448T>C (CYP11B1) MANE Select	NP_000488.3:p.Met483Thr