Canonical Allele Identifier: CA463325103

Gene: CYP11B1 GML

Linked Data

• COSMIC: COSM5667779
• MyVariant Identifiers: chr8:g.143955858T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874442T>A , CM000670.2:g.142874442T>A	GRCh38
NC_000008.10:g.143955858T>A , CM000670.1:g.143955858T>A	GRCh37
NC_000008.9:g.143952860T>A	NCBI36
NG_007954.1:g.10379A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1443A>T (CYP11B1) MANE Select	ENSP00000292427.5:p.Ile481=
ENST00000292427.8:c.1443A>T (CYP11B1)	ENSP00000292427.4:p.Ile481=
ENST00000314111.4:n.1640A>T (CYP11B1)
ENST00000377675.3:c.1656A>T (CYP11B1)	ENSP00000366903.3:p.Ile552=
ENST00000517471.5:c.1245A>T (CYP11B1)	ENSP00000428043.1:p.Ile415=
ENST00000519285.5:c.477A>T (CYP11B1)	ENSP00000430144.1:p.Ile159=
ENST00000522728.5:c.181+33217T>A (GML)	ENSP00000430799.1:n.181+33217T>A
NM_000497.3:c.1443A>T (CYP11B1)	NP_000488.3:p.Ile481=
NM_001026213.1:c.1245A>T (CYP11B1)	NP_001021384.1:p.Ile415=
XM_011516870.1:c.1681A>T (CYP11B1)	XP_011515172.1:p.Lys561Ter
XM_011516871.1:c.1612A>T (CYP11B1)	XP_011515173.1:p.Lys538Ter
XM_011516872.1:c.1603A>T (CYP11B1)	XP_011515174.1:p.Lys535Ter
XM_011516873.1:c.1590A>T (CYP11B1)	XP_011515175.1:p.Ile530=
XM_011516874.1:c.1521A>T (CYP11B1)	XP_011515176.1:p.Ile507=
XM_011516875.1:c.1420A>T (CYP11B1)	XP_011515177.1:p.Lys474Ter
XM_011516876.1:c.1392A>T (CYP11B1)	XP_011515178.1:p.Ile464=
XM_011516970.1:c.214+33217T>A (GML)	XP_011515272.1:n.214+33217T>A
NM_000497.4:c.1443A>T (CYP11B1) MANE Select	NP_000488.3:p.Ile481=