Canonical Allele Identifier: CA187460751

Linked Data

dbSNP Id: rs764996968

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142875311G>A , CM000670.2:g.142875311G>A GRCh38
NC_000008.10:g.143956727G>A , CM000670.1:g.143956727G>A GRCh37
NC_000008.9:g.143953729G>A NCBI36
NG_007954.1:g.9510C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000292427.10:c.1123C>T (CYP11B1) MANE Select ENSP00000292427.5:p.Leu375Phe
ENST00000292427.8:c.1123C>T (CYP11B1) ENSP00000292427.4:p.Leu375Phe
ENST00000314111.4:n.1518C>T (CYP11B1)
ENST00000377675.3:c.1336C>T (CYP11B1) ENSP00000366903.3:p.Leu446Phe
ENST00000517471.5:c.1123C>T (CYP11B1) ENSP00000428043.1:p.Leu375Phe
ENST00000519285.5:c.157C>T (CYP11B1) ENSP00000430144.1:p.Leu53Phe
ENST00000522728.5:c.181+34086G>A (GML) ENSP00000430799.1:n.181+34086G>A
NM_000497.3:c.1123C>T (CYP11B1) NP_000488.3:p.Leu375Phe
NM_001026213.1:c.1123C>T (CYP11B1) NP_001021384.1:p.Leu375Phe
XM_011516870.1:c.1270C>T (CYP11B1) XP_011515172.1:p.Leu424Phe
XM_011516871.1:c.1201C>T (CYP11B1) XP_011515173.1:p.Leu401Phe
XM_011516872.1:c.1192C>T (CYP11B1) XP_011515174.1:p.Leu398Phe
XM_011516873.1:c.1270C>T (CYP11B1) XP_011515175.1:p.Leu424Phe
XM_011516874.1:c.1201C>T (CYP11B1) XP_011515176.1:p.Leu401Phe
XM_011516875.1:c.1009C>T (CYP11B1) XP_011515177.1:p.Leu337Phe
XM_011516876.1:c.1270C>T (CYP11B1) XP_011515178.1:p.Leu424Phe
XM_011516970.1:c.214+34086G>A (GML) XP_011515272.1:n.214+34086G>A
NM_000497.4:c.1123C>T (CYP11B1) MANE Select NP_000488.3:p.Leu375Phe