Canonical Allele Identifier: CA372390809

Gene: CYP11B1 GML

Linked Data

• gnomAD v4: 8-142874423-T-C
• MyVariant Identifiers: chr8:g.143955839T>C (hg19) ; chr8:g.142874423T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874423T>C , CM000670.2:g.142874423T>C	GRCh38
NC_000008.10:g.143955839T>C , CM000670.1:g.143955839T>C	GRCh37
NC_000008.9:g.143952841T>C	NCBI36
NG_007954.1:g.10398A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1462A>G (CYP11B1) MANE Select	ENSP00000292427.5:p.Ile488Val
ENST00000292427.8:c.1462A>G (CYP11B1)	ENSP00000292427.4:p.Ile488Val
ENST00000314111.4:n.1659A>G (CYP11B1)
ENST00000377675.3:c.1675A>G (CYP11B1)	ENSP00000366903.3:p.Ile559Val
ENST00000517471.5:c.1264A>G (CYP11B1)	ENSP00000428043.1:p.Ile422Val
ENST00000519285.5:c.496A>G (CYP11B1)	ENSP00000430144.1:p.Ile166Val
ENST00000522728.5:c.181+33198T>C (GML)	ENSP00000430799.1:n.181+33198T>C
NM_000497.3:c.1462A>G (CYP11B1)	NP_000488.3:p.Ile488Val
NM_001026213.1:c.1264A>G (CYP11B1)	NP_001021384.1:p.Ile422Val
XM_011516870.1:c.1700A>G (CYP11B1)	XP_011515172.1:p.His567Arg
XM_011516871.1:c.1631A>G (CYP11B1)	XP_011515173.1:p.His544Arg
XM_011516872.1:c.1622A>G (CYP11B1)	XP_011515174.1:p.His541Arg
XM_011516873.1:c.1609A>G (CYP11B1)	XP_011515175.1:p.Ile537Val
XM_011516874.1:c.1540A>G (CYP11B1)	XP_011515176.1:p.Ile514Val
XM_011516875.1:c.1439A>G (CYP11B1)	XP_011515177.1:p.His480Arg
XM_011516876.1:c.1411A>G (CYP11B1)	XP_011515178.1:p.Ile471Val
XM_011516970.1:c.214+33198T>C (GML)	XP_011515272.1:n.214+33198T>C
NM_000497.4:c.1462A>G (CYP11B1) MANE Select	NP_000488.3:p.Ile488Val