Canonical Allele Identifier: CA372390873

Gene: CYP11B1 GML

Linked Data

• MyVariant Identifiers: chr8:g.143955851C>G (hg19) ; chr8:g.142874435C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874435C>G , CM000670.2:g.142874435C>G	GRCh38
NC_000008.10:g.143955851C>G , CM000670.1:g.143955851C>G	GRCh37
NC_000008.9:g.143952853C>G	NCBI36
NG_007954.1:g.10386G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1450G>C (CYP11B1) MANE Select	ENSP00000292427.5:p.Val484Leu
ENST00000292427.8:c.1450G>C (CYP11B1)	ENSP00000292427.4:p.Val484Leu
ENST00000314111.4:n.1647G>C (CYP11B1)
ENST00000377675.3:c.1663G>C (CYP11B1)	ENSP00000366903.3:p.Val555Leu
ENST00000517471.5:c.1252G>C (CYP11B1)	ENSP00000428043.1:p.Val418Leu
ENST00000519285.5:c.484G>C (CYP11B1)	ENSP00000430144.1:p.Val162Leu
ENST00000522728.5:c.181+33210C>G (GML)	ENSP00000430799.1:n.181+33210C>G
NM_000497.3:c.1450G>C (CYP11B1)	NP_000488.3:p.Val484Leu
NM_001026213.1:c.1252G>C (CYP11B1)	NP_001021384.1:p.Val418Leu
XM_011516870.1:c.1688G>C (CYP11B1)	XP_011515172.1:p.Gly563Ala
XM_011516871.1:c.1619G>C (CYP11B1)	XP_011515173.1:p.Gly540Ala
XM_011516872.1:c.1610G>C (CYP11B1)	XP_011515174.1:p.Gly537Ala
XM_011516873.1:c.1597G>C (CYP11B1)	XP_011515175.1:p.Val533Leu
XM_011516874.1:c.1528G>C (CYP11B1)	XP_011515176.1:p.Val510Leu
XM_011516875.1:c.1427G>C (CYP11B1)	XP_011515177.1:p.Gly476Ala
XM_011516876.1:c.1399G>C (CYP11B1)	XP_011515178.1:p.Val467Leu
XM_011516970.1:c.214+33210C>G (GML)	XP_011515272.1:n.214+33210C>G
NM_000497.4:c.1450G>C (CYP11B1) MANE Select	NP_000488.3:p.Val484Leu