Canonical Allele Identifier: CA385505119

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158796A>T (hg19) ; chr12:g.57765013A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765013A>T , CM000674.2:g.57765013A>T	GRCh38
NC_000012.11:g.58158796A>T , CM000674.1:g.58158796A>T	GRCh37
NC_000012.10:g.56445063A>T	NCBI36
NG_007076.1:g.7181T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.700T>A
ENST00000713544.1:c.869T>A	ENSP00000518840.1:p.Phe290Tyr
ENST00000713545.1:c.846T>A	ENSP00000518841.1:p.Ile282=
ENST00000228606.9:c.788T>A MANE Select	ENSP00000228606.4:p.Phe263Tyr
ENST00000228606.8:c.788T>A	ENSP00000228606.4:p.Phe263Tyr
ENST00000546567.5:c.83T>A	ENSP00000449472.1:p.Phe28Tyr
ENST00000546609.1:c.700T>A
ENST00000547344.5:n.927T>A
ENST00000547451.1:n.588T>A
NM_000785.3:c.788T>A	NP_000776.1:p.Phe263Tyr
NM_000785.4:c.788T>A MANE Select	NP_000776.1:p.Phe263Tyr