Canonical Allele Identifier: CA372390909

Gene: CYP11B1 GML

Linked Data

• MyVariant Identifiers: chr8:g.143955857T>G (hg19) ; chr8:g.142874441T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874441T>G , CM000670.2:g.142874441T>G	GRCh38
NC_000008.10:g.143955857T>G , CM000670.1:g.143955857T>G	GRCh37
NC_000008.9:g.143952859T>G	NCBI36
NG_007954.1:g.10380A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1444A>C (CYP11B1) MANE Select	ENSP00000292427.5:p.Lys482Gln
ENST00000292427.8:c.1444A>C (CYP11B1)	ENSP00000292427.4:p.Lys482Gln
ENST00000314111.4:n.1641A>C (CYP11B1)
ENST00000377675.3:c.1657A>C (CYP11B1)	ENSP00000366903.3:p.Lys553Gln
ENST00000517471.5:c.1246A>C (CYP11B1)	ENSP00000428043.1:p.Lys416Gln
ENST00000519285.5:c.478A>C (CYP11B1)	ENSP00000430144.1:p.Lys160Gln
ENST00000522728.5:c.181+33216T>G (GML)	ENSP00000430799.1:n.181+33216T>G
NM_000497.3:c.1444A>C (CYP11B1)	NP_000488.3:p.Lys482Gln
NM_001026213.1:c.1246A>C (CYP11B1)	NP_001021384.1:p.Lys416Gln
XM_011516870.1:c.1682A>C (CYP11B1)	XP_011515172.1:p.Lys561Thr
XM_011516871.1:c.1613A>C (CYP11B1)	XP_011515173.1:p.Lys538Thr
XM_011516872.1:c.1604A>C (CYP11B1)	XP_011515174.1:p.Lys535Thr
XM_011516873.1:c.1591A>C (CYP11B1)	XP_011515175.1:p.Lys531Gln
XM_011516874.1:c.1522A>C (CYP11B1)	XP_011515176.1:p.Lys508Gln
XM_011516875.1:c.1421A>C (CYP11B1)	XP_011515177.1:p.Lys474Thr
XM_011516876.1:c.1393A>C (CYP11B1)	XP_011515178.1:p.Lys465Gln
XM_011516970.1:c.214+33216T>G (GML)	XP_011515272.1:n.214+33216T>G
NM_000497.4:c.1444A>C (CYP11B1) MANE Select	NP_000488.3:p.Lys482Gln