Canonical Allele Identifier: CA2038988836

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765137T= , CM000674.2:g.57765137T=	GRCh38
NC_000012.11:g.58158920T= , CM000674.1:g.58158920T=	GRCh37
NC_000012.10:g.56445187T=	NCBI36
NG_007076.1:g.7057A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.576A=
ENST00000713544.1:c.745A=	ENSP00000518840.1:p.Ile249=
ENST00000713545.1:c.722A=	ENSP00000518841.1:p.His241=
ENST00000228606.9:c.664A= MANE Select	ENSP00000228606.4:p.Ile222=
ENST00000228606.8:c.664A=	ENSP00000228606.4:p.Ile222=
ENST00000546567.5:c.-42A=	ENSP00000449472.1:n.-42A=
ENST00000546609.1:c.576A=
ENST00000547344.5:n.803A=
ENST00000547451.1:n.464A=
NM_000785.3:c.664A=	NP_000776.1:p.Ile222=
NM_000785.4:c.664A= MANE Select	NP_000776.1:p.Ile222=