Canonical Allele Identifier: CA2039015079

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763658T= , CM000674.2:g.57763658T=	GRCh38
NC_000012.11:g.58157441T= , CM000674.1:g.58157441T=	GRCh37
NC_000012.10:g.56443708T=	NCBI36
NG_007076.1:g.8536A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1447A=	ENSP00000518840.1:p.Met483=
ENST00000713545.1:c.*371A=	ENSP00000518841.1:n.*371A=
ENST00000228606.9:c.1366A= MANE Select	ENSP00000228606.4:p.Met456=
ENST00000228606.8:c.1366A=	ENSP00000228606.4:p.Met456=
ENST00000547344.5:n.1505A=
NM_000785.3:c.1366A=	NP_000776.1:p.Met456=
NM_000785.4:c.1366A= MANE Select	NP_000776.1:p.Met456=