Canonical Allele Identifier: CA372392516

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 2136708
• ClinVar RCV Id: RCV003062182
• dbSNP Id: rs1816900835
• MyVariant Identifiers: chr8:g.143956700G>C (hg19) ; chr8:g.142875284G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875284G>C , CM000670.2:g.142875284G>C	GRCh38
NC_000008.10:g.143956700G>C , CM000670.1:g.143956700G>C	GRCh37
NC_000008.9:g.143953702G>C	NCBI36
NG_007954.1:g.9537C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1150C>G (CYP11B1) MANE Select	ENSP00000292427.5:p.Arg384Gly
ENST00000292427.8:c.1150C>G (CYP11B1)	ENSP00000292427.4:p.Arg384Gly
ENST00000314111.4:n.1545C>G (CYP11B1)
ENST00000377675.3:c.1363C>G (CYP11B1)	ENSP00000366903.3:p.Arg455Gly
ENST00000517471.5:c.1150C>G (CYP11B1)	ENSP00000428043.1:p.Arg384Gly
ENST00000519285.5:c.184C>G (CYP11B1)	ENSP00000430144.1:p.Arg62Gly
ENST00000522728.5:c.181+34059G>C (GML)	ENSP00000430799.1:n.181+34059G>C
NM_000497.3:c.1150C>G (CYP11B1)	NP_000488.3:p.Arg384Gly
NM_001026213.1:c.1150C>G (CYP11B1)	NP_001021384.1:p.Arg384Gly
XM_011516870.1:c.1297C>G (CYP11B1)	XP_011515172.1:p.Arg433Gly
XM_011516871.1:c.1228C>G (CYP11B1)	XP_011515173.1:p.Arg410Gly
XM_011516872.1:c.1219C>G (CYP11B1)	XP_011515174.1:p.Arg407Gly
XM_011516873.1:c.1297C>G (CYP11B1)	XP_011515175.1:p.Arg433Gly
XM_011516874.1:c.1228C>G (CYP11B1)	XP_011515176.1:p.Arg410Gly
XM_011516875.1:c.1036C>G (CYP11B1)	XP_011515177.1:p.Arg346Gly
XM_011516876.1:c.1297C>G (CYP11B1)	XP_011515178.1:p.Arg433Gly
XM_011516970.1:c.214+34059G>C (GML)	XP_011515272.1:n.214+34059G>C
NM_000497.4:c.1150C>G (CYP11B1) MANE Select	NP_000488.3:p.Arg384Gly