Canonical Allele Identifier: CA372390488

Gene: CYP11B1 GML

Linked Data

• MyVariant Identifiers: chr8:g.143955790T>G (hg19) ; chr8:g.142874374T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874374T>G , CM000670.2:g.142874374T>G	GRCh38
NC_000008.10:g.143955790T>G , CM000670.1:g.143955790T>G	GRCh37
NC_000008.9:g.143952792T>G	NCBI36
NG_007954.1:g.10447A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1511A>C (CYP11B1) MANE Select	ENSP00000292427.5:p.Ter504Ser
ENST00000292427.8:c.1511A>C (CYP11B1)	ENSP00000292427.4:p.Ter504Ser
ENST00000314111.4:n.1708A>C (CYP11B1)
ENST00000377675.3:c.1724A>C (CYP11B1)	ENSP00000366903.3:p.Ter575Ser
ENST00000517471.5:c.1313A>C (CYP11B1)	ENSP00000428043.1:p.Ter438Ser
ENST00000519285.5:c.545A>C (CYP11B1)	ENSP00000430144.1:p.Ter182Ser
ENST00000522728.5:c.181+33149T>G (GML)	ENSP00000430799.1:n.181+33149T>G
NM_000497.3:c.1511A>C (CYP11B1)	NP_000488.3:p.Ter504Ser
NM_001026213.1:c.1313A>C (CYP11B1)	NP_001021384.1:p.Ter438Ser
XM_011516870.1:c.1749A>C (CYP11B1)	XP_011515172.1:p.Leu583=
XM_011516871.1:c.1680A>C (CYP11B1)	XP_011515173.1:p.Leu560=
XM_011516872.1:c.1671A>C (CYP11B1)	XP_011515174.1:p.Leu557=
XM_011516873.1:c.1658A>C (CYP11B1)	XP_011515175.1:p.Ter553Ser
XM_011516874.1:c.1589A>C (CYP11B1)	XP_011515176.1:p.Ter530Ser
XM_011516875.1:c.1488A>C (CYP11B1)	XP_011515177.1:p.Leu496=
XM_011516876.1:c.1460A>C (CYP11B1)	XP_011515178.1:p.Ter487Ser
XM_011516970.1:c.214+33149T>G (GML)	XP_011515272.1:n.214+33149T>G
NM_000497.4:c.1511A>C (CYP11B1) MANE Select	NP_000488.3:p.Ter504Ser