Canonical Allele Identifier: CA372393185

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs1368298413
• gnomAD v2: 8-143956783-C-T
• gnomAD v4: 8-142875367-C-T
• MyVariant Identifiers: chr8:g.143956783C>T (hg19) ; chr8:g.142875367C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875367C>T , CM000670.2:g.142875367C>T	GRCh38
NC_000008.10:g.143956783C>T , CM000670.1:g.143956783C>T	GRCh37
NC_000008.9:g.143953785C>T	NCBI36
NG_007954.1:g.9454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1122-55G>A (CYP11B1) MANE Select	ENSP00000292427.5:n.1122-55G>A
ENST00000292427.8:c.1122-55G>A (CYP11B1)	ENSP00000292427.4:n.1122-55G>A
ENST00000314111.4:n.1517-55G>A (CYP11B1)
ENST00000377675.3:c.1335-55G>A (CYP11B1)	ENSP00000366903.3:n.1335-55G>A
ENST00000517471.5:c.1122-55G>A (CYP11B1)	ENSP00000428043.1:n.1122-55G>A
ENST00000519285.5:c.101G>A (CYP11B1)	ENSP00000430144.1:p.Ser34Asn
ENST00000522728.5:c.181+34142C>T (GML)	ENSP00000430799.1:n.181+34142C>T
NM_000497.3:c.1122-55G>A (CYP11B1)	NP_000488.3:n.1122-55G>A
NM_001026213.1:c.1122-55G>A (CYP11B1)	NP_001021384.1:n.1122-55G>A
XM_011516870.1:c.1214G>A (CYP11B1)	XP_011515172.1:p.Ser405Asn
XM_011516871.1:c.1200-55G>A (CYP11B1)	XP_011515173.1:n.1200-55G>A
XM_011516872.1:c.1136G>A (CYP11B1)	XP_011515174.1:p.Ser379Asn
XM_011516873.1:c.1214G>A (CYP11B1)	XP_011515175.1:p.Ser405Asn
XM_011516874.1:c.1200-55G>A (CYP11B1)	XP_011515176.1:n.1200-55G>A
XM_011516875.1:c.953G>A (CYP11B1)	XP_011515177.1:p.Ser318Asn
XM_011516876.1:c.1214G>A (CYP11B1)	XP_011515178.1:p.Ser405Asn
XM_011516970.1:c.214+34142C>T (GML)	XP_011515272.1:n.214+34142C>T
NM_000497.4:c.1122-55G>A (CYP11B1) MANE Select	NP_000488.3:n.1122-55G>A