Canonical Allele Identifier: CA385505267

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158865T>A (hg19) ; chr12:g.57765082T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765082T>A , CM000674.2:g.57765082T>A	GRCh38
NC_000012.11:g.58158865T>A , CM000674.1:g.58158865T>A	GRCh37
NC_000012.10:g.56445132T>A	NCBI36
NG_007076.1:g.7112A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.631A>T
ENST00000713544.1:c.800A>T	ENSP00000518840.1:p.His267Leu
ENST00000713545.1:c.777A>T	ENSP00000518841.1:p.Pro259=
ENST00000228606.9:c.719A>T MANE Select	ENSP00000228606.4:p.His240Leu
ENST00000228606.8:c.719A>T	ENSP00000228606.4:p.His240Leu
ENST00000546567.5:c.14A>T	ENSP00000449472.1:p.His5Leu
ENST00000546609.1:c.631A>T
ENST00000547344.5:n.858A>T
ENST00000547451.1:n.519A>T
NM_000785.3:c.719A>T	NP_000776.1:p.His240Leu
NM_000785.4:c.719A>T MANE Select	NP_000776.1:p.His240Leu