Canonical Allele Identifier: CA372394350

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 2022401
• ClinVar RCV Id: RCV002875592
• dbSNP Id: rs149881706
• MyVariant Identifiers: chr8:g.143957254C>G (hg19) ; chr8:g.142875838C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875838C>G , CM000670.2:g.142875838C>G	GRCh38
NC_000008.10:g.143957254C>G , CM000670.1:g.143957254C>G	GRCh37
NC_000008.9:g.143954256C>G	NCBI36
NG_007954.1:g.8983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.995G>C (CYP11B1) MANE Select	ENSP00000292427.5:p.Arg332Pro
ENST00000292427.8:c.995G>C (CYP11B1)	ENSP00000292427.4:p.Arg332Pro
ENST00000314111.4:n.1390G>C (CYP11B1)
ENST00000377675.3:c.1208G>C (CYP11B1)	ENSP00000366903.3:p.Arg403Pro
ENST00000517471.5:c.995G>C (CYP11B1)	ENSP00000428043.1:p.Arg332Pro
ENST00000522728.5:c.181+34613C>G (GML)	ENSP00000430799.1:n.181+34613C>G
NM_000497.3:c.995G>C (CYP11B1)	NP_000488.3:p.Arg332Pro
NM_001026213.1:c.995G>C (CYP11B1)	NP_001021384.1:p.Arg332Pro
XM_011516870.1:c.1073G>C (CYP11B1)	XP_011515172.1:p.Arg358Pro
XM_011516871.1:c.1073G>C (CYP11B1)	XP_011515173.1:p.Arg358Pro
XM_011516872.1:c.995G>C (CYP11B1)	XP_011515174.1:p.Arg332Pro
XM_011516873.1:c.1073G>C (CYP11B1)	XP_011515175.1:p.Arg358Pro
XM_011516874.1:c.1073G>C (CYP11B1)	XP_011515176.1:p.Arg358Pro
XM_011516875.1:c.812G>C (CYP11B1)	XP_011515177.1:p.Arg271Pro
XM_011516876.1:c.1073G>C (CYP11B1)	XP_011515178.1:p.Arg358Pro
XM_011516970.1:c.214+34613C>G (GML)	XP_011515272.1:n.214+34613C>G
NM_000497.4:c.995G>C (CYP11B1) MANE Select	NP_000488.3:p.Arg332Pro