Canonical Allele Identifier: CA385505335

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158897A>T (hg19) ; chr12:g.57765114A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765114A>T , CM000674.2:g.57765114A>T	GRCh38
NC_000012.11:g.58158897A>T , CM000674.1:g.58158897A>T	GRCh37
NC_000012.10:g.56445164A>T	NCBI36
NG_007076.1:g.7080T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.599T>A
ENST00000713544.1:c.768T>A	ENSP00000518840.1:p.Phe256Leu
ENST00000713545.1:c.745T>A	ENSP00000518841.1:p.Cys249Ser
ENST00000228606.9:c.687T>A MANE Select	ENSP00000228606.4:p.Phe229Leu
ENST00000228606.8:c.687T>A	ENSP00000228606.4:p.Phe229Leu
ENST00000546567.5:c.-19T>A	ENSP00000449472.1:n.-19T>A
ENST00000546609.1:c.599T>A
ENST00000547344.5:n.826T>A
ENST00000547451.1:n.487T>A
NM_000785.3:c.687T>A	NP_000776.1:p.Phe229Leu
NM_000785.4:c.687T>A MANE Select	NP_000776.1:p.Phe229Leu