Canonical Allele Identifier: CA463324875

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 1150996
• ClinVar RCV Id: RCV001491752
• dbSNP Id: rs1816867192
• MyVariant Identifiers: chr8:g.143955801T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874385T>C , CM000670.2:g.142874385T>C	GRCh38
NC_000008.10:g.143955801T>C , CM000670.1:g.143955801T>C	GRCh37
NC_000008.9:g.143952803T>C	NCBI36
NG_007954.1:g.10436A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1500A>G (CYP11B1) MANE Select	ENSP00000292427.5:p.Arg500=
ENST00000292427.8:c.1500A>G (CYP11B1)	ENSP00000292427.4:p.Arg500=
ENST00000314111.4:n.1697A>G (CYP11B1)
ENST00000377675.3:c.1713A>G (CYP11B1)	ENSP00000366903.3:p.Arg571=
ENST00000517471.5:c.1302A>G (CYP11B1)	ENSP00000428043.1:p.Arg434=
ENST00000519285.5:c.534A>G (CYP11B1)	ENSP00000430144.1:p.Arg178=
ENST00000522728.5:c.181+33160T>C (GML)	ENSP00000430799.1:n.181+33160T>C
NM_000497.3:c.1500A>G (CYP11B1)	NP_000488.3:p.Arg500=
NM_001026213.1:c.1302A>G (CYP11B1)	NP_001021384.1:p.Arg434=
XM_011516870.1:c.1738A>G (CYP11B1)	XP_011515172.1:p.Ser580Gly
XM_011516871.1:c.1669A>G (CYP11B1)	XP_011515173.1:p.Ser557Gly
XM_011516872.1:c.1660A>G (CYP11B1)	XP_011515174.1:p.Ser554Gly
XM_011516873.1:c.1647A>G (CYP11B1)	XP_011515175.1:p.Arg549=
XM_011516874.1:c.1578A>G (CYP11B1)	XP_011515176.1:p.Arg526=
XM_011516875.1:c.1477A>G (CYP11B1)	XP_011515177.1:p.Ser493Gly
XM_011516876.1:c.1449A>G (CYP11B1)	XP_011515178.1:p.Arg483=
XM_011516970.1:c.214+33160T>C (GML)	XP_011515272.1:n.214+33160T>C
NM_000497.4:c.1500A>G (CYP11B1) MANE Select	NP_000488.3:p.Arg500=