Canonical Allele Identifier: CA463325093

Gene: CYP11B1 GML

Linked Data

• MyVariant Identifiers: chr8:g.143955855C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874439C>T , CM000670.2:g.142874439C>T	GRCh38
NC_000008.10:g.143955855C>T , CM000670.1:g.143955855C>T	GRCh37
NC_000008.9:g.143952857C>T	NCBI36
NG_007954.1:g.10382G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1446G>A (CYP11B1) MANE Select	ENSP00000292427.5:p.Lys482=
ENST00000292427.8:c.1446G>A (CYP11B1)	ENSP00000292427.4:p.Lys482=
ENST00000314111.4:n.1643G>A (CYP11B1)
ENST00000377675.3:c.1659G>A (CYP11B1)	ENSP00000366903.3:p.Lys553=
ENST00000517471.5:c.1248G>A (CYP11B1)	ENSP00000428043.1:p.Lys416=
ENST00000519285.5:c.480G>A (CYP11B1)	ENSP00000430144.1:p.Lys160=
ENST00000522728.5:c.181+33214C>T (GML)	ENSP00000430799.1:n.181+33214C>T
NM_000497.3:c.1446G>A (CYP11B1)	NP_000488.3:p.Lys482=
NM_001026213.1:c.1248G>A (CYP11B1)	NP_001021384.1:p.Lys416=
XM_011516870.1:c.1684G>A (CYP11B1)	XP_011515172.1:p.Asp562Asn
XM_011516871.1:c.1615G>A (CYP11B1)	XP_011515173.1:p.Asp539Asn
XM_011516872.1:c.1606G>A (CYP11B1)	XP_011515174.1:p.Asp536Asn
XM_011516873.1:c.1593G>A (CYP11B1)	XP_011515175.1:p.Lys531=
XM_011516874.1:c.1524G>A (CYP11B1)	XP_011515176.1:p.Lys508=
XM_011516875.1:c.1423G>A (CYP11B1)	XP_011515177.1:p.Asp475Asn
XM_011516876.1:c.1395G>A (CYP11B1)	XP_011515178.1:p.Lys465=
XM_011516970.1:c.214+33214C>T (GML)	XP_011515272.1:n.214+33214C>T
NM_000497.4:c.1446G>A (CYP11B1) MANE Select	NP_000488.3:p.Lys482=