Canonical Allele Identifier: CA385505536

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158962C>G (hg19) ; chr12:g.57765179C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765179C>G , CM000674.2:g.57765179C>G	GRCh38
NC_000012.11:g.58158962C>G , CM000674.1:g.58158962C>G	GRCh37
NC_000012.10:g.56445229C>G	NCBI36
NG_007076.1:g.7015G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.534G>C
ENST00000713544.1:c.703G>C	ENSP00000518840.1:p.Gly235Arg
ENST00000713545.1:c.680G>C	ENSP00000518841.1:p.Gly227Ala
ENST00000228606.9:c.622G>C MANE Select	ENSP00000228606.4:p.Gly208Arg
ENST00000228606.8:c.622G>C	ENSP00000228606.4:p.Gly208Arg
ENST00000546567.5:c.-84G>C	ENSP00000449472.1:n.-84G>C
ENST00000546609.1:c.534G>C
ENST00000547344.5:n.761G>C
ENST00000547451.1:n.422G>C
NM_000785.3:c.622G>C	NP_000776.1:p.Gly208Arg
NM_000785.4:c.622G>C MANE Select	NP_000776.1:p.Gly208Arg