Canonical Allele Identifier: CA4904945

Gene: CYP11B1 GML

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874419A>G , CM000670.2:g.142874419A>G	GRCh38
NC_000008.10:g.143955835A>G , CM000670.1:g.143955835A>G	GRCh37
NC_000008.9:g.143952837A>G	NCBI36
NG_007954.1:g.10402T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000497.4:c.1466T>C (CYP11B1) MANE Select	NP_000488.3:p.Leu489Ser
ENST00000292427.10:c.1466T>C (CYP11B1) MANE Select	ENSP00000292427.5:p.Leu489Ser
NM_000497.3:c.1466T>C (CYP11B1)	NP_000488.3:p.Leu489Ser
NM_001026213.1:c.1268T>C (CYP11B1)	NP_001021384.1:p.Leu423Ser
ENST00000292427.8:c.1466T>C (CYP11B1)	ENSP00000292427.4:p.Leu489Ser
ENST00000314111.4:n.1663T>C (CYP11B1)
ENST00000377675.3:c.1679T>C (CYP11B1)	ENSP00000366903.3:p.Leu560Ser
ENST00000517471.5:c.1268T>C (CYP11B1)	ENSP00000428043.1:p.Leu423Ser
ENST00000519285.5:c.500T>C (CYP11B1)	ENSP00000430144.1:p.Leu167Ser
ENST00000522728.5:c.181+33194A>G (GML)	ENSP00000430799.1:n.181+33194A>G
XM_011516870.1:c.1704T>C (CYP11B1)	XP_011515172.1:p.Ile568=
XM_011516871.1:c.1635T>C (CYP11B1)	XP_011515173.1:p.Ile545=
XM_011516872.1:c.1626T>C (CYP11B1)	XP_011515174.1:p.Ile542=
XM_011516873.1:c.1613T>C (CYP11B1)	XP_011515175.1:p.Leu538Ser
XM_011516874.1:c.1544T>C (CYP11B1)	XP_011515176.1:p.Leu515Ser
XM_011516875.1:c.1443T>C (CYP11B1)	XP_011515177.1:p.Ile481=
XM_011516876.1:c.1415T>C (CYP11B1)	XP_011515178.1:p.Leu472Ser
XM_011516970.1:c.214+33194A>G (GML)	XP_011515272.1:n.214+33194A>G