Canonical Allele Identifier: CA480403203

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158960G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765177G>C , CM000674.2:g.57765177G>C	GRCh38
NC_000012.11:g.58158960G>C , CM000674.1:g.58158960G>C	GRCh37
NC_000012.10:g.56445227G>C	NCBI36
NG_007076.1:g.7017C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.536C>G
ENST00000713544.1:c.705C>G	ENSP00000518840.1:p.Gly235=
ENST00000713545.1:c.682C>G	ENSP00000518841.1:p.Leu228Val
ENST00000228606.9:c.624C>G MANE Select	ENSP00000228606.4:p.Gly208=
ENST00000228606.8:c.624C>G	ENSP00000228606.4:p.Gly208=
ENST00000546567.5:c.-82C>G	ENSP00000449472.1:n.-82C>G
ENST00000546609.1:c.536C>G
ENST00000547344.5:n.763C>G
ENST00000547451.1:n.424C>G
NM_000785.3:c.624C>G	NP_000776.1:p.Gly208=
NM_000785.4:c.624C>G MANE Select	NP_000776.1:p.Gly208=