Canonical Allele Identifier: CA2038987424

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764404C= , CM000674.2:g.57764404C=	GRCh38
NC_000012.11:g.58158187C= , CM000674.1:g.58158187C=	GRCh37
NC_000012.10:g.56444454C=	NCBI36
NG_007076.1:g.7790G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1191G=	ENSP00000518840.1:p.Leu397=
ENST00000713545.1:c.*115G=	ENSP00000518841.1:n.*115G=
ENST00000228606.9:c.1110G= MANE Select	ENSP00000228606.4:p.Leu370=
ENST00000228606.8:c.1110G=	ENSP00000228606.4:p.Leu370=
ENST00000546567.5:c.405G=	ENSP00000449472.1:p.Leu135=
ENST00000547344.5:n.1249G=
NM_000785.3:c.1110G=	NP_000776.1:p.Leu370=
NM_000785.4:c.1110G= MANE Select	NP_000776.1:p.Leu370=