Canonical Allele Identifier: CA2038988660

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765073C= , CM000674.2:g.57765073C=	GRCh38
NC_000012.11:g.58158856C= , CM000674.1:g.58158856C=	GRCh37
NC_000012.10:g.56445123C=	NCBI36
NG_007076.1:g.7121G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.640G=
ENST00000713544.1:c.809G=	ENSP00000518840.1:p.Arg270=
ENST00000713545.1:c.786G=	ENSP00000518841.1:p.Ala262=
ENST00000228606.9:c.728G= MANE Select	ENSP00000228606.4:p.Arg243=
ENST00000228606.8:c.728G=	ENSP00000228606.4:p.Arg243=
ENST00000546567.5:c.23G=	ENSP00000449472.1:p.Arg8=
ENST00000546609.1:c.640G=
ENST00000547344.5:n.867G=
ENST00000547451.1:n.528G=
NM_000785.3:c.728G=	NP_000776.1:p.Arg243=
NM_000785.4:c.728G= MANE Select	NP_000776.1:p.Arg243=