Canonical Allele Identifier: CA2038988675

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765080A= , CM000674.2:g.57765080A=	GRCh38
NC_000012.11:g.58158863A= , CM000674.1:g.58158863A=	GRCh37
NC_000012.10:g.56445130A=	NCBI36
NG_007076.1:g.7114T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.633T=
ENST00000713544.1:c.802T=	ENSP00000518840.1:p.Trp268=
ENST00000713545.1:c.779T=	ENSP00000518841.1:p.Leu260=
ENST00000228606.9:c.721T= MANE Select	ENSP00000228606.4:p.Trp241=
ENST00000228606.8:c.721T=	ENSP00000228606.4:p.Trp241=
ENST00000546567.5:c.16T=	ENSP00000449472.1:p.Trp6=
ENST00000546609.1:c.633T=
ENST00000547344.5:n.860T=
ENST00000547451.1:n.521T=
NM_000785.3:c.721T=	NP_000776.1:p.Trp241=
NM_000785.4:c.721T= MANE Select	NP_000776.1:p.Trp241=