Canonical Allele Identifier: CA463505771

Gene: CYP11B1 GML

Linked Data

• gnomAD v4: 8-142875261-C-T
• MyVariant Identifiers: chr8:g.143956677C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875261C>T , CM000670.2:g.142875261C>T	GRCh38
NC_000008.10:g.143956677C>T , CM000670.1:g.143956677C>T	GRCh37
NC_000008.9:g.143953679C>T	NCBI36
NG_007954.1:g.9560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1173G>A (CYP11B1) MANE Select	ENSP00000292427.5:p.Val391=
ENST00000292427.8:c.1173G>A (CYP11B1)	ENSP00000292427.4:p.Val391=
ENST00000314111.4:n.1568G>A (CYP11B1)
ENST00000377675.3:c.1386G>A (CYP11B1)	ENSP00000366903.3:p.Val462=
ENST00000517471.5:c.1173G>A (CYP11B1)	ENSP00000428043.1:p.Val391=
ENST00000519285.5:c.207G>A (CYP11B1)	ENSP00000430144.1:p.Val69=
ENST00000522728.5:c.181+34036C>T (GML)	ENSP00000430799.1:n.181+34036C>T
NM_000497.3:c.1173G>A (CYP11B1)	NP_000488.3:p.Val391=
NM_001026213.1:c.1173G>A (CYP11B1)	NP_001021384.1:p.Val391=
XM_011516870.1:c.1320G>A (CYP11B1)	XP_011515172.1:p.Val440=
XM_011516871.1:c.1251G>A (CYP11B1)	XP_011515173.1:p.Val417=
XM_011516872.1:c.1242G>A (CYP11B1)	XP_011515174.1:p.Val414=
XM_011516873.1:c.1320G>A (CYP11B1)	XP_011515175.1:p.Val440=
XM_011516874.1:c.1251G>A (CYP11B1)	XP_011515176.1:p.Val417=
XM_011516875.1:c.1059G>A (CYP11B1)	XP_011515177.1:p.Val353=
XM_011516876.1:c.1320G>A (CYP11B1)	XP_011515178.1:p.Val440=
XM_011516970.1:c.214+34036C>T (GML)	XP_011515272.1:n.214+34036C>T
NM_000497.4:c.1173G>A (CYP11B1) MANE Select	NP_000488.3:p.Val391=