Canonical Allele Identifier: CA2038987512

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764455A= , CM000674.2:g.57764455A=	GRCh38
NC_000012.11:g.58158238A= , CM000674.1:g.58158238A=	GRCh37
NC_000012.10:g.56444505A=	NCBI36
NG_007076.1:g.7739T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1140T=	ENSP00000518840.1:p.Pro380=
ENST00000713545.1:c.*64T=	ENSP00000518841.1:n.*64T=
ENST00000228606.9:c.1059T= MANE Select	ENSP00000228606.4:p.Pro353=
ENST00000228606.8:c.1059T=	ENSP00000228606.4:p.Pro353=
ENST00000546567.5:c.354T=	ENSP00000449472.1:p.Pro118=
ENST00000547344.5:n.1198T=
NM_000785.3:c.1059T=	NP_000776.1:p.Pro353=
NM_000785.4:c.1059T= MANE Select	NP_000776.1:p.Pro353=