Canonical Allele Identifier: CA2688876693

Gene: CYP11B1 GML

Linked Data

• gnomAD v4: 8-142875221-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875221G>A , CM000670.2:g.142875221G>A	GRCh38
NC_000008.10:g.143956637G>A , CM000670.1:g.143956637G>A	GRCh37
NC_000008.9:g.143953639G>A	NCBI36
NG_007954.1:g.9600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1200+13C>T (CYP11B1) MANE Select	ENSP00000292427.5:n.1200+13C>T
ENST00000292427.8:c.1200+13C>T (CYP11B1)	ENSP00000292427.4:n.1200+13C>T
ENST00000314111.4:n.1595+13C>T (CYP11B1)
ENST00000377675.3:c.1413+13C>T (CYP11B1)	ENSP00000366903.3:n.1413+13C>T
ENST00000517471.5:c.1200+13C>T (CYP11B1)	ENSP00000428043.1:n.1200+13C>T
ENST00000519285.5:c.234+13C>T (CYP11B1)	ENSP00000430144.1:n.234+13C>T
ENST00000522728.5:c.181+33996G>A (GML)	ENSP00000430799.1:n.181+33996G>A
NM_000497.3:c.1200+13C>T (CYP11B1)	NP_000488.3:n.1200+13C>T
NM_001026213.1:c.1200+13C>T (CYP11B1)	NP_001021384.1:n.1200+13C>T
XM_011516870.1:c.1347+13C>T (CYP11B1)	XP_011515172.1:n.1347+13C>T
XM_011516871.1:c.1278+13C>T (CYP11B1)	XP_011515173.1:n.1278+13C>T
XM_011516872.1:c.1269+13C>T (CYP11B1)	XP_011515174.1:n.1269+13C>T
XM_011516873.1:c.1347+13C>T (CYP11B1)	XP_011515175.1:n.1347+13C>T
XM_011516874.1:c.1278+13C>T (CYP11B1)	XP_011515176.1:n.1278+13C>T
XM_011516875.1:c.1086+13C>T (CYP11B1)	XP_011515177.1:n.1086+13C>T
XM_011516876.1:c.1347+13C>T (CYP11B1)	XP_011515178.1:n.1347+13C>T
XM_011516970.1:c.214+33996G>A (GML)	XP_011515272.1:n.214+33996G>A
NM_000497.4:c.1200+13C>T (CYP11B1) MANE Select	NP_000488.3:n.1200+13C>T