Canonical Allele Identifier: CA2038987531

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764462A= , CM000674.2:g.57764462A=	GRCh38
NC_000012.11:g.58158245A= , CM000674.1:g.58158245A=	GRCh37
NC_000012.10:g.56444512A=	NCBI36
NG_007076.1:g.7732T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1133T=	ENSP00000518840.1:p.Leu378=
ENST00000713545.1:c.*57T=	ENSP00000518841.1:n.*57T=
ENST00000228606.9:c.1052T= MANE Select	ENSP00000228606.4:p.Leu351=
ENST00000228606.8:c.1052T=	ENSP00000228606.4:p.Leu351=
ENST00000546567.5:c.347T=	ENSP00000449472.1:p.Leu116=
ENST00000547344.5:n.1191T=
NM_000785.3:c.1052T=	NP_000776.1:p.Leu351=
NM_000785.4:c.1052T= MANE Select	NP_000776.1:p.Leu351=