Canonical Allele Identifier: CA213667

Linked Data

ClinVar Variation Id: 1186
dbSNP Id: rs104894070

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142879146G>A , CM000670.2:g.142879146G>A GRCh38
NC_000008.10:g.143960562G>A , CM000670.1:g.143960562G>A GRCh37
NC_000008.9:g.143957564G>A NCBI36
NG_007954.1:g.5675C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000292427.10:c.281C>T (CYP11B1) MANE Select ENSP00000292427.5:p.Pro94Leu
ENST00000292427.8:c.281C>T (CYP11B1) ENSP00000292427.4:p.Pro94Leu
ENST00000314111.4:n.314C>T (CYP11B1)
ENST00000377675.3:c.416C>T (CYP11B1) ENSP00000366903.3:p.Pro139Leu
ENST00000517471.5:c.281C>T (CYP11B1) ENSP00000428043.1:p.Pro94Leu
ENST00000522728.5:c.182-34817G>A (GML) ENSP00000430799.1:n.182-34817G>A
NM_000497.3:c.281C>T (CYP11B1) NP_000488.3:p.Pro94Leu
NM_001026213.1:c.281C>T (CYP11B1) NP_001021384.1:p.Pro94Leu
XM_011516870.1:c.281C>T (CYP11B1) XP_011515172.1:p.Pro94Leu
XM_011516871.1:c.281C>T (CYP11B1) XP_011515173.1:p.Pro94Leu
XM_011516872.1:c.281C>T (CYP11B1) XP_011515174.1:p.Pro94Leu
XM_011516873.1:c.281C>T (CYP11B1) XP_011515175.1:p.Pro94Leu
XM_011516874.1:c.281C>T (CYP11B1) XP_011515176.1:p.Pro94Leu
XM_011516875.1:c.20C>T (CYP11B1) XP_011515177.1:p.Pro7Leu
XM_011516876.1:c.281C>T (CYP11B1) XP_011515178.1:p.Pro94Leu
XM_011516970.1:c.215-34817G>A (GML) XP_011515272.1:n.215-34817G>A
NM_000497.4:c.281C>T (CYP11B1) MANE Select NP_000488.3:p.Pro94Leu