Canonical Allele Identifier: CA463327672

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 1092809
• ClinVar RCV Id: RCV001412779
• dbSNP Id: rs2130273719
• MyVariant Identifiers: chr8:g.143957801A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876385A>G , CM000670.2:g.142876385A>G	GRCh38
NC_000008.10:g.143957801A>G , CM000670.1:g.143957801A>G	GRCh37
NC_000008.9:g.143954803A>G	NCBI36
NG_007954.1:g.8436T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.810T>C (CYP11B1) MANE Select	ENSP00000292427.5:p.Cys270=
ENST00000292427.8:c.810T>C (CYP11B1)	ENSP00000292427.4:p.Cys270=
ENST00000314111.4:n.843T>C (CYP11B1)
ENST00000377675.3:c.1023T>C (CYP11B1)	ENSP00000366903.3:p.Cys341=
ENST00000517471.5:c.810T>C (CYP11B1)	ENSP00000428043.1:p.Cys270=
ENST00000522728.5:c.181+35160A>G (GML)	ENSP00000430799.1:n.181+35160A>G
NM_000497.3:c.810T>C (CYP11B1)	NP_000488.3:p.Cys270=
NM_001026213.1:c.810T>C (CYP11B1)	NP_001021384.1:p.Cys270=
XM_011516870.1:c.888T>C (CYP11B1)	XP_011515172.1:p.Cys296=
XM_011516871.1:c.888T>C (CYP11B1)	XP_011515173.1:p.Cys296=
XM_011516872.1:c.810T>C (CYP11B1)	XP_011515174.1:p.Cys270=
XM_011516873.1:c.888T>C (CYP11B1)	XP_011515175.1:p.Cys296=
XM_011516874.1:c.888T>C (CYP11B1)	XP_011515176.1:p.Cys296=
XM_011516875.1:c.627T>C (CYP11B1)	XP_011515177.1:p.Cys209=
XM_011516876.1:c.888T>C (CYP11B1)	XP_011515178.1:p.Cys296=
XM_011516970.1:c.214+35160A>G (GML)	XP_011515272.1:n.214+35160A>G
NM_000497.4:c.810T>C (CYP11B1) MANE Select	NP_000488.3:p.Cys270=