Canonical Allele Identifier: CA372390934

Gene: CYP11B1 GML

Linked Data

• MyVariant Identifiers: chr8:g.143955862T>A (hg19) ; chr8:g.142874446T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874446T>A , CM000670.2:g.142874446T>A	GRCh38
NC_000008.10:g.143955862T>A , CM000670.1:g.143955862T>A	GRCh37
NC_000008.9:g.143952864T>A	NCBI36
NG_007954.1:g.10375A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1439A>T (CYP11B1) MANE Select	ENSP00000292427.5:p.Asp480Val
ENST00000292427.8:c.1439A>T (CYP11B1)	ENSP00000292427.4:p.Asp480Val
ENST00000314111.4:n.1636A>T (CYP11B1)
ENST00000377675.3:c.1652A>T (CYP11B1)	ENSP00000366903.3:p.Asp551Val
ENST00000517471.5:c.1241A>T (CYP11B1)	ENSP00000428043.1:p.Asp414Val
ENST00000519285.5:c.473A>T (CYP11B1)	ENSP00000430144.1:p.Asp158Val
ENST00000522728.5:c.181+33221T>A (GML)	ENSP00000430799.1:n.181+33221T>A
NM_000497.3:c.1439A>T (CYP11B1)	NP_000488.3:p.Asp480Val
NM_001026213.1:c.1241A>T (CYP11B1)	NP_001021384.1:p.Asp414Val
XM_011516870.1:c.1677A>T (CYP11B1)	XP_011515172.1:p.Gly559=
XM_011516871.1:c.1608A>T (CYP11B1)	XP_011515173.1:p.Gly536=
XM_011516872.1:c.1599A>T (CYP11B1)	XP_011515174.1:p.Gly533=
XM_011516873.1:c.1586A>T (CYP11B1)	XP_011515175.1:p.Asp529Val
XM_011516874.1:c.1517A>T (CYP11B1)	XP_011515176.1:p.Asp506Val
XM_011516875.1:c.1416A>T (CYP11B1)	XP_011515177.1:p.Gly472=
XM_011516876.1:c.1388A>T (CYP11B1)	XP_011515178.1:p.Asp463Val
XM_011516970.1:c.214+33221T>A (GML)	XP_011515272.1:n.214+33221T>A
NM_000497.4:c.1439A>T (CYP11B1) MANE Select	NP_000488.3:p.Asp480Val