Canonical Allele Identifier: CA2580831235

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142872874G>T , CM000670.2:g.142872874G>T	GRCh38
NC_000008.10:g.143954290G>T , CM000670.1:g.143954290G>T	GRCh37
NC_000008.9:g.143951292G>T	NCBI36
NG_007954.1:g.11947C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000497.4:c.*1499C>A (CYP11B1) MANE Select	NP_000488.3:n.*1499C>A
ENST00000292427.10:c.*1499C>A (CYP11B1) MANE Select	ENSP00000292427.5:n.*1499C>A
NM_000497.3:c.*1499C>A (CYP11B1)	NP_000488.3:n.*1499C>A
NM_001026213.1:c.*1499C>A (CYP11B1)	NP_001021384.1:n.*1499C>A
ENST00000314111.4:n.3208C>A (CYP11B1)
ENST00000519285.5:c.2045C>A (CYP11B1)	ENSP00000430144.1:n.2045C>A
ENST00000522728.5:c.181+31649G>T (GML)	ENSP00000430799.1:n.181+31649G>T
XM_011516870.1:c.*1401C>A (CYP11B1)	XP_011515172.1:n.*1401C>A
XM_011516871.1:c.*1401C>A (CYP11B1)	XP_011515173.1:n.*1401C>A
XM_011516872.1:c.*1401C>A (CYP11B1)	XP_011515174.1:n.*1401C>A
XM_011516873.1:c.*1499C>A (CYP11B1)	XP_011515175.1:n.*1499C>A
XM_011516874.1:c.*1499C>A (CYP11B1)	XP_011515176.1:n.*1499C>A
XM_011516875.1:c.*1401C>A (CYP11B1)	XP_011515177.1:n.*1401C>A
XM_011516876.1:c.*1499C>A (CYP11B1)	XP_011515178.1:n.*1499C>A
XM_011516970.1:c.214+31649G>T (GML)	XP_011515272.1:n.214+31649G>T