Canonical Allele Identifier: CA372392519

Gene: CYP11B1 GML

Linked Data

• MyVariant Identifiers: chr8:g.143956701C>A (hg19) ; chr8:g.142875285C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875285C>A , CM000670.2:g.142875285C>A	GRCh38
NC_000008.10:g.143956701C>A , CM000670.1:g.143956701C>A	GRCh37
NC_000008.9:g.143953703C>A	NCBI36
NG_007954.1:g.9536G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1149G>T (CYP11B1) MANE Select	ENSP00000292427.5:p.Glu383Asp
ENST00000292427.8:c.1149G>T (CYP11B1)	ENSP00000292427.4:p.Glu383Asp
ENST00000314111.4:n.1544G>T (CYP11B1)
ENST00000377675.3:c.1362G>T (CYP11B1)	ENSP00000366903.3:p.Glu454Asp
ENST00000517471.5:c.1149G>T (CYP11B1)	ENSP00000428043.1:p.Glu383Asp
ENST00000519285.5:c.183G>T (CYP11B1)	ENSP00000430144.1:p.Glu61Asp
ENST00000522728.5:c.181+34060C>A (GML)	ENSP00000430799.1:n.181+34060C>A
NM_000497.3:c.1149G>T (CYP11B1)	NP_000488.3:p.Glu383Asp
NM_001026213.1:c.1149G>T (CYP11B1)	NP_001021384.1:p.Glu383Asp
XM_011516870.1:c.1296G>T (CYP11B1)	XP_011515172.1:p.Glu432Asp
XM_011516871.1:c.1227G>T (CYP11B1)	XP_011515173.1:p.Glu409Asp
XM_011516872.1:c.1218G>T (CYP11B1)	XP_011515174.1:p.Glu406Asp
XM_011516873.1:c.1296G>T (CYP11B1)	XP_011515175.1:p.Glu432Asp
XM_011516874.1:c.1227G>T (CYP11B1)	XP_011515176.1:p.Glu409Asp
XM_011516875.1:c.1035G>T (CYP11B1)	XP_011515177.1:p.Glu345Asp
XM_011516876.1:c.1296G>T (CYP11B1)	XP_011515178.1:p.Glu432Asp
XM_011516970.1:c.214+34060C>A (GML)	XP_011515272.1:n.214+34060C>A
NM_000497.4:c.1149G>T (CYP11B1) MANE Select	NP_000488.3:p.Glu383Asp