Canonical Allele Identifier: CA372394356

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 864109
• ClinVar RCV Id: RCV001071218
• dbSNP Id: rs777626314
• MyVariant Identifiers: chr8:g.143957255G>C (hg19) ; chr8:g.142875839G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875839G>C , CM000670.2:g.142875839G>C	GRCh38
NC_000008.10:g.143957255G>C , CM000670.1:g.143957255G>C	GRCh37
NC_000008.9:g.143954257G>C	NCBI36
NG_007954.1:g.8982C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.994C>G (CYP11B1) MANE Select	ENSP00000292427.5:p.Arg332Gly
ENST00000292427.8:c.994C>G (CYP11B1)	ENSP00000292427.4:p.Arg332Gly
ENST00000314111.4:n.1389C>G (CYP11B1)
ENST00000377675.3:c.1207C>G (CYP11B1)	ENSP00000366903.3:p.Arg403Gly
ENST00000517471.5:c.994C>G (CYP11B1)	ENSP00000428043.1:p.Arg332Gly
ENST00000522728.5:c.181+34614G>C (GML)	ENSP00000430799.1:n.181+34614G>C
NM_000497.3:c.994C>G (CYP11B1)	NP_000488.3:p.Arg332Gly
NM_001026213.1:c.994C>G (CYP11B1)	NP_001021384.1:p.Arg332Gly
XM_011516870.1:c.1072C>G (CYP11B1)	XP_011515172.1:p.Arg358Gly
XM_011516871.1:c.1072C>G (CYP11B1)	XP_011515173.1:p.Arg358Gly
XM_011516872.1:c.994C>G (CYP11B1)	XP_011515174.1:p.Arg332Gly
XM_011516873.1:c.1072C>G (CYP11B1)	XP_011515175.1:p.Arg358Gly
XM_011516874.1:c.1072C>G (CYP11B1)	XP_011515176.1:p.Arg358Gly
XM_011516875.1:c.811C>G (CYP11B1)	XP_011515177.1:p.Arg271Gly
XM_011516876.1:c.1072C>G (CYP11B1)	XP_011515178.1:p.Arg358Gly
XM_011516970.1:c.214+34614G>C (GML)	XP_011515272.1:n.214+34614G>C
NM_000497.4:c.994C>G (CYP11B1) MANE Select	NP_000488.3:p.Arg332Gly