Canonical Allele Identifier: CA480403012

Gene: CYP27B1

Linked Data

• ClinVar Variation Id: 2967114
• ClinVar RCV Id: RCV003823792
• MyVariant Identifiers: chr12:g.58158906G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765123G>T , CM000674.2:g.57765123G>T	GRCh38
NC_000012.11:g.58158906G>T , CM000674.1:g.58158906G>T	GRCh37
NC_000012.10:g.56445173G>T	NCBI36
NG_007076.1:g.7071C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.590C>A
ENST00000713544.1:c.759C>A	ENSP00000518840.1:p.Gly253=
ENST00000713545.1:c.736C>A	ENSP00000518841.1:p.Leu246Ile
ENST00000228606.9:c.678C>A MANE Select	ENSP00000228606.4:p.Gly226=
ENST00000228606.8:c.678C>A	ENSP00000228606.4:p.Gly226=
ENST00000546567.5:c.-28C>A	ENSP00000449472.1:n.-28C>A
ENST00000546609.1:c.590C>A
ENST00000547344.5:n.817C>A
ENST00000547451.1:n.478C>A
NM_000785.3:c.678C>A	NP_000776.1:p.Gly226=
NM_000785.4:c.678C>A MANE Select	NP_000776.1:p.Gly226=