Canonical Allele Identifier: CA2039014969

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763619A= , CM000674.2:g.57763619A=	GRCh38
NC_000012.11:g.58157402A= , CM000674.1:g.58157402A=	GRCh37
NC_000012.10:g.56443669A=	NCBI36
NG_007076.1:g.8575T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1486T=	ENSP00000518840.1:p.Leu496=
ENST00000713545.1:c.*410T=	ENSP00000518841.1:n.*410T=
ENST00000228606.9:c.1405T= MANE Select	ENSP00000228606.4:p.Leu469=
ENST00000228606.8:c.1405T=	ENSP00000228606.4:p.Leu469=
ENST00000547344.5:n.1544T=
NM_000785.3:c.1405T=	NP_000776.1:p.Leu469=
NM_000785.4:c.1405T= MANE Select	NP_000776.1:p.Leu469=