Canonical Allele Identifier: CA385505400

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158929C>T (hg19) ; chr12:g.57765146C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765146C>T , CM000674.2:g.57765146C>T	GRCh38
NC_000012.11:g.58158929C>T , CM000674.1:g.58158929C>T	GRCh37
NC_000012.10:g.56445196C>T	NCBI36
NG_007076.1:g.7048G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.567G>A
ENST00000713544.1:c.736G>A	ENSP00000518840.1:p.Glu246Lys
ENST00000713545.1:c.713G>A	ENSP00000518841.1:p.Gly238Glu
ENST00000228606.9:c.655G>A MANE Select	ENSP00000228606.4:p.Glu219Lys
ENST00000228606.8:c.655G>A	ENSP00000228606.4:p.Glu219Lys
ENST00000546567.5:c.-51G>A	ENSP00000449472.1:n.-51G>A
ENST00000546609.1:c.567G>A
ENST00000547344.5:n.794G>A
ENST00000547451.1:n.455G>A
NM_000785.3:c.655G>A	NP_000776.1:p.Glu219Lys
NM_000785.4:c.655G>A MANE Select	NP_000776.1:p.Glu219Lys