Canonical Allele Identifier: CA2038990616

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766014G= , CM000674.2:g.57766014G=	GRCh38
NC_000012.11:g.58159797G= , CM000674.1:g.58159797G=	GRCh37
NC_000012.10:g.56446064G=	NCBI36
NG_007076.1:g.6180C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.291C=
ENST00000713544.1:c.379C=	ENSP00000518840.1:p.Leu127=
ENST00000713545.1:c.379C=	ENSP00000518841.1:p.Leu127=
ENST00000228606.9:c.379C= MANE Select	ENSP00000228606.4:p.Leu127=
ENST00000228606.8:c.379C=	ENSP00000228606.4:p.Leu127=
ENST00000546496.1:n.207C=
ENST00000546609.1:c.291C=
ENST00000547344.5:n.433C=
ENST00000552186.1:n.498C=
NM_000785.3:c.379C=	NP_000776.1:p.Leu127=
NM_000785.4:c.379C= MANE Select	NP_000776.1:p.Leu127=