Canonical Allele Identifier: CA372392414

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs1418650345
• gnomAD v4: 8-142875268-T-G
• MyVariant Identifiers: chr8:g.143956684T>G (hg19) ; chr8:g.142875268T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875268T>G , CM000670.2:g.142875268T>G	GRCh38
NC_000008.10:g.143956684T>G , CM000670.1:g.143956684T>G	GRCh37
NC_000008.9:g.143953686T>G	NCBI36
NG_007954.1:g.9553A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1166A>C (CYP11B1) MANE Select	ENSP00000292427.5:p.Asp389Ala
ENST00000292427.8:c.1166A>C (CYP11B1)	ENSP00000292427.4:p.Asp389Ala
ENST00000314111.4:n.1561A>C (CYP11B1)
ENST00000377675.3:c.1379A>C (CYP11B1)	ENSP00000366903.3:p.Asp460Ala
ENST00000517471.5:c.1166A>C (CYP11B1)	ENSP00000428043.1:p.Asp389Ala
ENST00000519285.5:c.200A>C (CYP11B1)	ENSP00000430144.1:p.Asp67Ala
ENST00000522728.5:c.181+34043T>G (GML)	ENSP00000430799.1:n.181+34043T>G
NM_000497.3:c.1166A>C (CYP11B1)	NP_000488.3:p.Asp389Ala
NM_001026213.1:c.1166A>C (CYP11B1)	NP_001021384.1:p.Asp389Ala
XM_011516870.1:c.1313A>C (CYP11B1)	XP_011515172.1:p.Asp438Ala
XM_011516871.1:c.1244A>C (CYP11B1)	XP_011515173.1:p.Asp415Ala
XM_011516872.1:c.1235A>C (CYP11B1)	XP_011515174.1:p.Asp412Ala
XM_011516873.1:c.1313A>C (CYP11B1)	XP_011515175.1:p.Asp438Ala
XM_011516874.1:c.1244A>C (CYP11B1)	XP_011515176.1:p.Asp415Ala
XM_011516875.1:c.1052A>C (CYP11B1)	XP_011515177.1:p.Asp351Ala
XM_011516876.1:c.1313A>C (CYP11B1)	XP_011515178.1:p.Asp438Ala
XM_011516970.1:c.214+34043T>G (GML)	XP_011515272.1:n.214+34043T>G
NM_000497.4:c.1166A>C (CYP11B1) MANE Select	NP_000488.3:p.Asp389Ala