Canonical Allele Identifier: CA372393621

Gene: CYP11B1 GML

Linked Data

• gnomAD v4: 8-142875745-G-A
• COSMIC: COSM145295
• MyVariant Identifiers: chr8:g.143957161G>A (hg19) ; chr8:g.142875745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875745G>A , CM000670.2:g.142875745G>A	GRCh38
NC_000008.10:g.143957161G>A , CM000670.1:g.143957161G>A	GRCh37
NC_000008.9:g.143954163G>A	NCBI36
NG_007954.1:g.9076C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1088C>T (CYP11B1) MANE Select	ENSP00000292427.5:p.Pro363Leu
ENST00000292427.8:c.1088C>T (CYP11B1)	ENSP00000292427.4:p.Pro363Leu
ENST00000314111.4:n.1483C>T (CYP11B1)
ENST00000377675.3:c.1301C>T (CYP11B1)	ENSP00000366903.3:p.Pro434Leu
ENST00000517471.5:c.1088C>T (CYP11B1)	ENSP00000428043.1:p.Pro363Leu
ENST00000519285.5:c.53C>T (CYP11B1)	ENSP00000430144.1:p.Pro18Leu
ENST00000522728.5:c.181+34520G>A (GML)	ENSP00000430799.1:n.181+34520G>A
NM_000497.3:c.1088C>T (CYP11B1)	NP_000488.3:p.Pro363Leu
NM_001026213.1:c.1088C>T (CYP11B1)	NP_001021384.1:p.Pro363Leu
XM_011516870.1:c.1166C>T (CYP11B1)	XP_011515172.1:p.Pro389Leu
XM_011516871.1:c.1166C>T (CYP11B1)	XP_011515173.1:p.Pro389Leu
XM_011516872.1:c.1088C>T (CYP11B1)	XP_011515174.1:p.Pro363Leu
XM_011516873.1:c.1166C>T (CYP11B1)	XP_011515175.1:p.Pro389Leu
XM_011516874.1:c.1166C>T (CYP11B1)	XP_011515176.1:p.Pro389Leu
XM_011516875.1:c.905C>T (CYP11B1)	XP_011515177.1:p.Pro302Leu
XM_011516876.1:c.1166C>T (CYP11B1)	XP_011515178.1:p.Pro389Leu
XM_011516970.1:c.214+34520G>A (GML)	XP_011515272.1:n.214+34520G>A
NM_000497.4:c.1088C>T (CYP11B1) MANE Select	NP_000488.3:p.Pro363Leu