Canonical Allele Identifier: CA385509461

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58159948C>G (hg19) ; chr12:g.57766165C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766165C>G , CM000674.2:g.57766165C>G	GRCh38
NC_000012.11:g.58159948C>G , CM000674.1:g.58159948C>G	GRCh37
NC_000012.10:g.56446215C>G	NCBI36
NG_007076.1:g.6029G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.140G>C
ENST00000713544.1:c.228G>C	ENSP00000518840.1:p.Trp76Cys
ENST00000713545.1:c.228G>C	ENSP00000518841.1:p.Trp76Cys
ENST00000228606.9:c.228G>C MANE Select	ENSP00000228606.4:p.Trp76Cys
ENST00000228606.8:c.228G>C	ENSP00000228606.4:p.Trp76Cys
ENST00000546496.1:n.56G>C
ENST00000546609.1:c.140G>C
ENST00000547344.5:n.282G>C
ENST00000552186.1:n.347G>C
NM_000785.3:c.228G>C	NP_000776.1:p.Trp76Cys
NM_000785.4:c.228G>C MANE Select	NP_000776.1:p.Trp76Cys