Canonical Allele Identifier: CA463505840

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 1127146
• ClinVar RCV Id: RCV001459416
• dbSNP Id: rs760880418
• gnomAD v2: 8-143956722-G-A
• gnomAD v4: 8-142875306-G-A
• MyVariant Identifiers: chr8:g.143956722G>A (hg19) ; chr8:g.142875306G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875306G>A , CM000670.2:g.142875306G>A	GRCh38
NC_000008.10:g.143956722G>A , CM000670.1:g.143956722G>A	GRCh37
NC_000008.9:g.143953724G>A	NCBI36
NG_007954.1:g.9515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1128C>T (CYP11B1) MANE Select	ENSP00000292427.5:p.Tyr376=
ENST00000292427.8:c.1128C>T (CYP11B1)	ENSP00000292427.4:p.Tyr376=
ENST00000314111.4:n.1523C>T (CYP11B1)
ENST00000377675.3:c.1341C>T (CYP11B1)	ENSP00000366903.3:p.Tyr447=
ENST00000517471.5:c.1128C>T (CYP11B1)	ENSP00000428043.1:p.Tyr376=
ENST00000519285.5:c.162C>T (CYP11B1)	ENSP00000430144.1:p.Tyr54=
ENST00000522728.5:c.181+34081G>A (GML)	ENSP00000430799.1:n.181+34081G>A
NM_000497.3:c.1128C>T (CYP11B1)	NP_000488.3:p.Tyr376=
NM_001026213.1:c.1128C>T (CYP11B1)	NP_001021384.1:p.Tyr376=
XM_011516870.1:c.1275C>T (CYP11B1)	XP_011515172.1:p.Tyr425=
XM_011516871.1:c.1206C>T (CYP11B1)	XP_011515173.1:p.Tyr402=
XM_011516872.1:c.1197C>T (CYP11B1)	XP_011515174.1:p.Tyr399=
XM_011516873.1:c.1275C>T (CYP11B1)	XP_011515175.1:p.Tyr425=
XM_011516874.1:c.1206C>T (CYP11B1)	XP_011515176.1:p.Tyr402=
XM_011516875.1:c.1014C>T (CYP11B1)	XP_011515177.1:p.Tyr338=
XM_011516876.1:c.1275C>T (CYP11B1)	XP_011515178.1:p.Tyr425=
XM_011516970.1:c.214+34081G>A (GML)	XP_011515272.1:n.214+34081G>A
NM_000497.4:c.1128C>T (CYP11B1) MANE Select	NP_000488.3:p.Tyr376=