Canonical Allele Identifier: CA463327262

Gene: CYP11B1 GML

Linked Data

• gnomAD v4: 8-142875876-C-G
• MyVariant Identifiers: chr8:g.143957292C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875876C>G , CM000670.2:g.142875876C>G	GRCh38
NC_000008.10:g.143957292C>G , CM000670.1:g.143957292C>G	GRCh37
NC_000008.9:g.143954294C>G	NCBI36
NG_007954.1:g.8945G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.957G>C (CYP11B1) MANE Select	ENSP00000292427.5:p.Thr319=
ENST00000292427.8:c.957G>C (CYP11B1)	ENSP00000292427.4:p.Thr319=
ENST00000314111.4:n.1352G>C (CYP11B1)
ENST00000377675.3:c.1170G>C (CYP11B1)	ENSP00000366903.3:p.Thr390=
ENST00000517471.5:c.957G>C (CYP11B1)	ENSP00000428043.1:p.Thr319=
ENST00000522728.5:c.181+34651C>G (GML)	ENSP00000430799.1:n.181+34651C>G
NM_000497.3:c.957G>C (CYP11B1)	NP_000488.3:p.Thr319=
NM_001026213.1:c.957G>C (CYP11B1)	NP_001021384.1:p.Thr319=
XM_011516870.1:c.1035G>C (CYP11B1)	XP_011515172.1:p.Thr345=
XM_011516871.1:c.1035G>C (CYP11B1)	XP_011515173.1:p.Thr345=
XM_011516872.1:c.957G>C (CYP11B1)	XP_011515174.1:p.Thr319=
XM_011516873.1:c.1035G>C (CYP11B1)	XP_011515175.1:p.Thr345=
XM_011516874.1:c.1035G>C (CYP11B1)	XP_011515176.1:p.Thr345=
XM_011516875.1:c.774G>C (CYP11B1)	XP_011515177.1:p.Thr258=
XM_011516876.1:c.1035G>C (CYP11B1)	XP_011515178.1:p.Thr345=
XM_011516970.1:c.214+34651C>G (GML)	XP_011515272.1:n.214+34651C>G
NM_000497.4:c.957G>C (CYP11B1) MANE Select	NP_000488.3:p.Thr319=