Canonical Allele Identifier: CA372390882

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs1203902696
• gnomAD v3: 8-142874436-C-T
• gnomAD v4: 8-142874436-C-T
• MyVariant Identifiers: chr8:g.143955852C>T (hg19) ; chr8:g.142874436C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874436C>T , CM000670.2:g.142874436C>T	GRCh38
NC_000008.10:g.143955852C>T , CM000670.1:g.143955852C>T	GRCh37
NC_000008.9:g.143952854C>T	NCBI36
NG_007954.1:g.10385G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1449G>A (CYP11B1) MANE Select	ENSP00000292427.5:p.Met483Ile
ENST00000292427.8:c.1449G>A (CYP11B1)	ENSP00000292427.4:p.Met483Ile
ENST00000314111.4:n.1646G>A (CYP11B1)
ENST00000377675.3:c.1662G>A (CYP11B1)	ENSP00000366903.3:p.Met554Ile
ENST00000517471.5:c.1251G>A (CYP11B1)	ENSP00000428043.1:p.Met417Ile
ENST00000519285.5:c.483G>A (CYP11B1)	ENSP00000430144.1:p.Met161Ile
ENST00000522728.5:c.181+33211C>T (GML)	ENSP00000430799.1:n.181+33211C>T
NM_000497.3:c.1449G>A (CYP11B1)	NP_000488.3:p.Met483Ile
NM_001026213.1:c.1251G>A (CYP11B1)	NP_001021384.1:p.Met417Ile
XM_011516870.1:c.1687G>A (CYP11B1)	XP_011515172.1:p.Gly563Ser
XM_011516871.1:c.1618G>A (CYP11B1)	XP_011515173.1:p.Gly540Ser
XM_011516872.1:c.1609G>A (CYP11B1)	XP_011515174.1:p.Gly537Ser
XM_011516873.1:c.1596G>A (CYP11B1)	XP_011515175.1:p.Met532Ile
XM_011516874.1:c.1527G>A (CYP11B1)	XP_011515176.1:p.Met509Ile
XM_011516875.1:c.1426G>A (CYP11B1)	XP_011515177.1:p.Gly476Ser
XM_011516876.1:c.1398G>A (CYP11B1)	XP_011515178.1:p.Met466Ile
XM_011516970.1:c.214+33211C>T (GML)	XP_011515272.1:n.214+33211C>T
NM_000497.4:c.1449G>A (CYP11B1) MANE Select	NP_000488.3:p.Met483Ile