Canonical Allele Identifier: CA372392526

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 2440670
• ClinVar RCV Id: RCV003145971
• MyVariant Identifiers: chr8:g.143956702T>C (hg19) ; chr8:g.142875286T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875286T>C , CM000670.2:g.142875286T>C	GRCh38
NC_000008.10:g.143956702T>C , CM000670.1:g.143956702T>C	GRCh37
NC_000008.9:g.143953704T>C	NCBI36
NG_007954.1:g.9535A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1148A>G (CYP11B1) MANE Select	ENSP00000292427.5:p.Glu383Gly
ENST00000292427.8:c.1148A>G (CYP11B1)	ENSP00000292427.4:p.Glu383Gly
ENST00000314111.4:n.1543A>G (CYP11B1)
ENST00000377675.3:c.1361A>G (CYP11B1)	ENSP00000366903.3:p.Glu454Gly
ENST00000517471.5:c.1148A>G (CYP11B1)	ENSP00000428043.1:p.Glu383Gly
ENST00000519285.5:c.182A>G (CYP11B1)	ENSP00000430144.1:p.Glu61Gly
ENST00000522728.5:c.181+34061T>C (GML)	ENSP00000430799.1:n.181+34061T>C
NM_000497.3:c.1148A>G (CYP11B1)	NP_000488.3:p.Glu383Gly
NM_001026213.1:c.1148A>G (CYP11B1)	NP_001021384.1:p.Glu383Gly
XM_011516870.1:c.1295A>G (CYP11B1)	XP_011515172.1:p.Glu432Gly
XM_011516871.1:c.1226A>G (CYP11B1)	XP_011515173.1:p.Glu409Gly
XM_011516872.1:c.1217A>G (CYP11B1)	XP_011515174.1:p.Glu406Gly
XM_011516873.1:c.1295A>G (CYP11B1)	XP_011515175.1:p.Glu432Gly
XM_011516874.1:c.1226A>G (CYP11B1)	XP_011515176.1:p.Glu409Gly
XM_011516875.1:c.1034A>G (CYP11B1)	XP_011515177.1:p.Glu345Gly
XM_011516876.1:c.1295A>G (CYP11B1)	XP_011515178.1:p.Glu432Gly
XM_011516970.1:c.214+34061T>C (GML)	XP_011515272.1:n.214+34061T>C
NM_000497.4:c.1148A>G (CYP11B1) MANE Select	NP_000488.3:p.Glu383Gly