Canonical Allele Identifier: CA213656

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 35983
• ClinVar RCV Id: RCV000029639 ; RCV003546459
• dbSNP Id: rs193922537
• ExAC: 8:143956740 G / A
• gnomAD v2: 8-143956740-G-A
• gnomAD v3: 8-142875324-G-A
• gnomAD v4: 8-142875324-G-A
• COSMIC: COSN8073764
• MyVariant Identifiers: chr8:g.143956740G>A (hg19) ; chr8:g.142875324G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875324G>A , CM000670.2:g.142875324G>A	GRCh38
NC_000008.10:g.143956740G>A , CM000670.1:g.143956740G>A	GRCh37
NC_000008.9:g.143953742G>A	NCBI36
NG_007954.1:g.9497C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1122-12C>T (CYP11B1) MANE Select	ENSP00000292427.5:n.1122-12C>T
ENST00000292427.8:c.1122-12C>T (CYP11B1)	ENSP00000292427.4:n.1122-12C>T
ENST00000314111.4:n.1517-12C>T (CYP11B1)
ENST00000377675.3:c.1335-12C>T (CYP11B1)	ENSP00000366903.3:n.1335-12C>T
ENST00000517471.5:c.1122-12C>T (CYP11B1)	ENSP00000428043.1:n.1122-12C>T
ENST00000519285.5:c.144C>T (CYP11B1)	ENSP00000430144.1:p.Ala48=
ENST00000522728.5:c.181+34099G>A (GML)	ENSP00000430799.1:n.181+34099G>A
NM_000497.3:c.1122-12C>T (CYP11B1)	NP_000488.3:n.1122-12C>T
NM_001026213.1:c.1122-12C>T (CYP11B1)	NP_001021384.1:n.1122-12C>T
XM_011516870.1:c.1257C>T (CYP11B1)	XP_011515172.1:p.Ala419=
XM_011516871.1:c.1200-12C>T (CYP11B1)	XP_011515173.1:n.1200-12C>T
XM_011516872.1:c.1179C>T (CYP11B1)	XP_011515174.1:p.Ala393=
XM_011516873.1:c.1257C>T (CYP11B1)	XP_011515175.1:p.Ala419=
XM_011516874.1:c.1200-12C>T (CYP11B1)	XP_011515176.1:n.1200-12C>T
XM_011516875.1:c.996C>T (CYP11B1)	XP_011515177.1:p.Ala332=
XM_011516876.1:c.1257C>T (CYP11B1)	XP_011515178.1:p.Ala419=
XM_011516970.1:c.214+34099G>A (GML)	XP_011515272.1:n.214+34099G>A
NM_000497.4:c.1122-12C>T (CYP11B1) MANE Select	NP_000488.3:n.1122-12C>T