Canonical Allele Identifier: CA385505163

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158813C>G (hg19) ; chr12:g.57765030C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765030C>G , CM000674.2:g.57765030C>G	GRCh38
NC_000012.11:g.58158813C>G , CM000674.1:g.58158813C>G	GRCh37
NC_000012.10:g.56445080C>G	NCBI36
NG_007076.1:g.7164G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.683G>C
ENST00000713544.1:c.852G>C	ENSP00000518840.1:p.Trp284Cys
ENST00000713545.1:c.829G>C	ENSP00000518841.1:p.Gly277Arg
ENST00000228606.9:c.771G>C MANE Select	ENSP00000228606.4:p.Trp257Cys
ENST00000228606.8:c.771G>C	ENSP00000228606.4:p.Trp257Cys
ENST00000546567.5:c.66G>C	ENSP00000449472.1:p.Trp22Cys
ENST00000546609.1:c.683G>C
ENST00000547344.5:n.910G>C
ENST00000547451.1:n.571G>C
NM_000785.3:c.771G>C	NP_000776.1:p.Trp257Cys
NM_000785.4:c.771G>C MANE Select	NP_000776.1:p.Trp257Cys