Canonical Allele Identifier: CA372390762

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142874416C>A , CM000670.2:g.142874416C>A GRCh38
NC_000008.10:g.143955832C>A , CM000670.1:g.143955832C>A GRCh37
NC_000008.9:g.143952834C>A NCBI36
NG_007954.1:g.10405G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000292427.10:c.1469G>T (CYP11B1) MANE Select ENSP00000292427.5:p.Arg490Met
ENST00000292427.8:c.1469G>T (CYP11B1) ENSP00000292427.4:p.Arg490Met
ENST00000314111.4:n.1666G>T (CYP11B1)
ENST00000377675.3:c.1682G>T (CYP11B1) ENSP00000366903.3:p.Arg561Met
ENST00000517471.5:c.1271G>T (CYP11B1) ENSP00000428043.1:p.Arg424Met
ENST00000519285.5:c.503G>T (CYP11B1) ENSP00000430144.1:p.Arg168Met
ENST00000522728.5:c.181+33191C>A (GML) ENSP00000430799.1:n.181+33191C>A
NM_000497.3:c.1469G>T (CYP11B1) NP_000488.3:p.Arg490Met
NM_001026213.1:c.1271G>T (CYP11B1) NP_001021384.1:p.Arg424Met
XM_011516870.1:c.1707G>T (CYP11B1) XP_011515172.1:p.Glu569Asp
XM_011516871.1:c.1638G>T (CYP11B1) XP_011515173.1:p.Glu546Asp
XM_011516872.1:c.1629G>T (CYP11B1) XP_011515174.1:p.Glu543Asp
XM_011516873.1:c.1616G>T (CYP11B1) XP_011515175.1:p.Arg539Met
XM_011516874.1:c.1547G>T (CYP11B1) XP_011515176.1:p.Arg516Met
XM_011516875.1:c.1446G>T (CYP11B1) XP_011515177.1:p.Glu482Asp
XM_011516876.1:c.1418G>T (CYP11B1) XP_011515178.1:p.Arg473Met
XM_011516970.1:c.214+33191C>A (GML) XP_011515272.1:n.214+33191C>A
NM_000497.4:c.1469G>T (CYP11B1) MANE Select NP_000488.3:p.Arg490Met