Canonical Allele Identifier: CA480401665

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158220G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764437G>C , CM000674.2:g.57764437G>C	GRCh38
NC_000012.11:g.58158220G>C , CM000674.1:g.58158220G>C	GRCh37
NC_000012.10:g.56444487G>C	NCBI36
NG_007076.1:g.7757C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1158C>G	ENSP00000518840.1:p.Pro386=
ENST00000713545.1:c.*82C>G	ENSP00000518841.1:n.*82C>G
ENST00000228606.9:c.1077C>G MANE Select	ENSP00000228606.4:p.Pro359=
ENST00000228606.8:c.1077C>G	ENSP00000228606.4:p.Pro359=
ENST00000546567.5:c.372C>G	ENSP00000449472.1:p.Pro124=
ENST00000547344.5:n.1216C>G
NM_000785.3:c.1077C>G	NP_000776.1:p.Pro359=
NM_000785.4:c.1077C>G MANE Select	NP_000776.1:p.Pro359=