Canonical Allele Identifier: CA1825492691

Gene: CYP11B1 GML

Genomic Alleles

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

Transcript Alleles

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