Canonical Allele Identifier: CA385505395

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158927C>A (hg19) ; chr12:g.57765144C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765144C>A , CM000674.2:g.57765144C>A	GRCh38
NC_000012.11:g.58158927C>A , CM000674.1:g.58158927C>A	GRCh37
NC_000012.10:g.56445194C>A	NCBI36
NG_007076.1:g.7050G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.569G>T
ENST00000713544.1:c.738G>T	ENSP00000518840.1:p.Glu246Asp
ENST00000713545.1:c.715G>T	ENSP00000518841.1:p.Asp239Tyr
ENST00000228606.9:c.657G>T MANE Select	ENSP00000228606.4:p.Glu219Asp
ENST00000228606.8:c.657G>T	ENSP00000228606.4:p.Glu219Asp
ENST00000546567.5:c.-49G>T	ENSP00000449472.1:n.-49G>T
ENST00000546609.1:c.569G>T
ENST00000547344.5:n.796G>T
ENST00000547451.1:n.457G>T
NM_000785.3:c.657G>T	NP_000776.1:p.Glu219Asp
NM_000785.4:c.657G>T MANE Select	NP_000776.1:p.Glu219Asp