Canonical Allele Identifier: CA372392227

Gene: CYP11B1 GML

Linked Data

• MyVariant Identifiers: chr8:g.143956665G>T (hg19) ; chr8:g.142875249G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875249G>T , CM000670.2:g.142875249G>T	GRCh38
NC_000008.10:g.143956665G>T , CM000670.1:g.143956665G>T	GRCh37
NC_000008.9:g.143953667G>T	NCBI36
NG_007954.1:g.9572C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1185C>A (CYP11B1) MANE Select	ENSP00000292427.5:p.Tyr395Ter
ENST00000292427.8:c.1185C>A (CYP11B1)	ENSP00000292427.4:p.Tyr395Ter
ENST00000314111.4:n.1580C>A (CYP11B1)
ENST00000377675.3:c.1398C>A (CYP11B1)	ENSP00000366903.3:p.Tyr466Ter
ENST00000517471.5:c.1185C>A (CYP11B1)	ENSP00000428043.1:p.Tyr395Ter
ENST00000519285.5:c.219C>A (CYP11B1)	ENSP00000430144.1:p.Tyr73Ter
ENST00000522728.5:c.181+34024G>T (GML)	ENSP00000430799.1:n.181+34024G>T
NM_000497.3:c.1185C>A (CYP11B1)	NP_000488.3:p.Tyr395Ter
NM_001026213.1:c.1185C>A (CYP11B1)	NP_001021384.1:p.Tyr395Ter
XM_011516870.1:c.1332C>A (CYP11B1)	XP_011515172.1:p.Tyr444Ter
XM_011516871.1:c.1263C>A (CYP11B1)	XP_011515173.1:p.Tyr421Ter
XM_011516872.1:c.1254C>A (CYP11B1)	XP_011515174.1:p.Tyr418Ter
XM_011516873.1:c.1332C>A (CYP11B1)	XP_011515175.1:p.Tyr444Ter
XM_011516874.1:c.1263C>A (CYP11B1)	XP_011515176.1:p.Tyr421Ter
XM_011516875.1:c.1071C>A (CYP11B1)	XP_011515177.1:p.Tyr357Ter
XM_011516876.1:c.1332C>A (CYP11B1)	XP_011515178.1:p.Tyr444Ter
XM_011516970.1:c.214+34024G>T (GML)	XP_011515272.1:n.214+34024G>T
NM_000497.4:c.1185C>A (CYP11B1) MANE Select	NP_000488.3:p.Tyr395Ter