Canonical Allele Identifier: CA385505265

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158864G>C (hg19) ; chr12:g.57765081G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765081G>C , CM000674.2:g.57765081G>C	GRCh38
NC_000012.11:g.58158864G>C , CM000674.1:g.58158864G>C	GRCh37
NC_000012.10:g.56445131G>C	NCBI36
NG_007076.1:g.7113C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.632C>G
ENST00000713544.1:c.801C>G	ENSP00000518840.1:p.His267Gln
ENST00000713545.1:c.778C>G	ENSP00000518841.1:p.Leu260Val
ENST00000228606.9:c.720C>G MANE Select	ENSP00000228606.4:p.His240Gln
ENST00000228606.8:c.720C>G	ENSP00000228606.4:p.His240Gln
ENST00000546567.5:c.15C>G	ENSP00000449472.1:p.His5Gln
ENST00000546609.1:c.632C>G
ENST00000547344.5:n.859C>G
ENST00000547451.1:n.520C>G
NM_000785.3:c.720C>G	NP_000776.1:p.His240Gln
NM_000785.4:c.720C>G MANE Select	NP_000776.1:p.His240Gln