Canonical Allele Identifier: CA7656549

Gene: CYP11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74345134C>T , CM000677.2:g.74345134C>T	GRCh38
NC_000015.9:g.74637475C>T , CM000677.1:g.74637475C>T	GRCh37
NC_000015.8:g.72424528C>T	NCBI36
NG_007973.1:g.27608G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000781.3:c.535G>A MANE Select	NP_000772.2:p.Val179Ile
ENST00000268053.11:c.535G>A MANE Select	ENSP00000268053.6:p.Val179Ile
NM_000781.2:c.535G>A	NP_000772.2:p.Val179Ile
NM_001099773.1:c.61G>A	NP_001093243.1:p.Val21Ile
NM_001099773.2:c.61G>A	NP_001093243.1:p.Val21Ile
ENST00000268053.10:c.535G>A	ENSP00000268053.6:p.Val179Ile
ENST00000358632.8:c.61G>A	ENSP00000351455.4:p.Val21Ile
ENST00000435365.5:c.535G>A	ENSP00000391081.1:p.Val179Ile
ENST00000450547.1:c.61G>A	ENSP00000402064.1:p.Val21Ile
ENST00000566674.5:c.61G>A	ENSP00000456941.1:p.Val21Ile
ENST00000569662.1:c.61G>A	ENSP00000456598.1:p.Val21Ile