Canonical Allele Identifier: CA480401755

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58157932A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764149A>T , CM000674.2:g.57764149A>T	GRCh38
NC_000012.11:g.58157932A>T , CM000674.1:g.58157932A>T	GRCh37
NC_000012.10:g.56444199A>T	NCBI36
NG_007076.1:g.8045T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1245T>A	ENSP00000518840.1:p.Ser415=
ENST00000713545.1:c.*169T>A	ENSP00000518841.1:n.*169T>A
ENST00000228606.9:c.1164T>A MANE Select	ENSP00000228606.4:p.Ser388=
ENST00000228606.8:c.1164T>A	ENSP00000228606.4:p.Ser388=
ENST00000546567.5:c.459T>A	ENSP00000449472.1:p.Ser153=
ENST00000547344.5:n.1303T>A
NM_000785.3:c.1164T>A	NP_000776.1:p.Ser388=
NM_000785.4:c.1164T>A MANE Select	NP_000776.1:p.Ser388=