Canonical Allele Identifier: CA463505800

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 1582128
• ClinVar RCV Id: RCV002111117
• dbSNP Id: rs2130274986
• gnomAD v4: 8-142876725-C-T
• COSMIC: COSM6180262
• MyVariant Identifiers: chr8:g.143958141C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876725C>T , CM000670.2:g.142876725C>T	GRCh38
NC_000008.10:g.143958141C>T , CM000670.1:g.143958141C>T	GRCh37
NC_000008.9:g.143955143C>T	NCBI36
NG_007954.1:g.8096G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.756G>A (CYP11B1) MANE Select	ENSP00000292427.5:p.Val252=
ENST00000292427.8:c.756G>A (CYP11B1)	ENSP00000292427.4:p.Val252=
ENST00000314111.4:n.789G>A (CYP11B1)
ENST00000377675.3:c.969G>A (CYP11B1)	ENSP00000366903.3:p.Val323=
ENST00000517471.5:c.756G>A (CYP11B1)	ENSP00000428043.1:p.Val252=
ENST00000522728.5:c.181+35500C>T (GML)	ENSP00000430799.1:n.181+35500C>T
NM_000497.3:c.756G>A (CYP11B1)	NP_000488.3:p.Val252=
NM_001026213.1:c.756G>A (CYP11B1)	NP_001021384.1:p.Val252=
XM_011516870.1:c.834G>A (CYP11B1)	XP_011515172.1:p.Val278=
XM_011516871.1:c.834G>A (CYP11B1)	XP_011515173.1:p.Val278=
XM_011516872.1:c.756G>A (CYP11B1)	XP_011515174.1:p.Val252=
XM_011516873.1:c.834G>A (CYP11B1)	XP_011515175.1:p.Val278=
XM_011516874.1:c.834G>A (CYP11B1)	XP_011515176.1:p.Val278=
XM_011516875.1:c.573G>A (CYP11B1)	XP_011515177.1:p.Val191=
XM_011516876.1:c.834G>A (CYP11B1)	XP_011515178.1:p.Val278=
XM_011516970.1:c.214+35500C>T (GML)	XP_011515272.1:n.214+35500C>T
NM_000497.4:c.756G>A (CYP11B1) MANE Select	NP_000488.3:p.Val252=