Canonical Allele Identifier: CA1328928874

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812659C= , CM000664.2:g.218812659C=	GRCh38
NC_000002.11:g.219677382C= , CM000664.1:g.219677382C=	GRCh37
NC_000002.10:g.219385626C=	NCBI36
NG_007959.1:g.35911C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.754C= MANE Select	ENSP00000258415.4:p.Leu252=
ENST00000258415.8:c.754C=	ENSP00000258415.4:p.Leu252=
ENST00000411688.1:c.472C=	ENSP00000392671.1:p.Leu158=
ENST00000445971.1:c.*215C=	ENSP00000404945.1:n.*215C=
ENST00000466602.1:n.702C=
ENST00000494263.5:n.1188C=
NM_000784.3:c.754C=	NP_000775.1:p.Leu252=
XM_017003488.2:c.334C=	XP_016858977.1:p.Leu112=
NM_000784.4:c.754C= MANE Select	NP_000775.1:p.Leu252=