Canonical Allele Identifier: CA1328928893

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812695G= , CM000664.2:g.218812695G=	GRCh38
NC_000002.11:g.219677418G= , CM000664.1:g.219677418G=	GRCh37
NC_000002.10:g.219385662G=	NCBI36
NG_007959.1:g.35947G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000258415.9:c.790G= MANE Select	ENSP00000258415.4:p.Val264=
ENST00000258415.8:c.790G=	ENSP00000258415.4:p.Val264=
ENST00000411688.1:c.508G=	ENSP00000392671.1:p.Val170=
ENST00000445971.1:c.*251G=	ENSP00000404945.1:n.*251G=
ENST00000466602.1:n.738G=
ENST00000494263.5:n.1224G=
NM_000784.3:c.790G=	NP_000775.1:p.Val264=
XM_017003488.2:c.370G=	XP_016858977.1:p.Val124=
NM_000784.4:c.790G= MANE Select	NP_000775.1:p.Val264=