Canonical Allele Identifier: CA2038988924

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765173G= , CM000674.2:g.57765173G=	GRCh38
NC_000012.11:g.58158956G= , CM000674.1:g.58158956G=	GRCh37
NC_000012.10:g.56445223G=	NCBI36
NG_007076.1:g.7021C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.540C=
ENST00000713544.1:c.709C=	ENSP00000518840.1:p.Leu237=
ENST00000713545.1:c.686C=	ENSP00000518841.1:p.Pro229=
ENST00000228606.9:c.628C= MANE Select	ENSP00000228606.4:p.Leu210=
ENST00000228606.8:c.628C=	ENSP00000228606.4:p.Leu210=
ENST00000546567.5:c.-78C=	ENSP00000449472.1:n.-78C=
ENST00000546609.1:c.540C=
ENST00000547344.5:n.767C=
ENST00000547451.1:n.428C=
NM_000785.3:c.628C=	NP_000776.1:p.Leu210=
NM_000785.4:c.628C= MANE Select	NP_000776.1:p.Leu210=