Canonical Allele Identifier: CA385505378

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158919A>T (hg19) ; chr12:g.57765136A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765136A>T , CM000674.2:g.57765136A>T	GRCh38
NC_000012.11:g.58158919A>T , CM000674.1:g.58158919A>T	GRCh37
NC_000012.10:g.56445186A>T	NCBI36
NG_007076.1:g.7058T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.577T>A
ENST00000713544.1:c.746T>A	ENSP00000518840.1:p.Ile249Asn
ENST00000713545.1:c.723T>A	ENSP00000518841.1:p.His241Gln
ENST00000228606.9:c.665T>A MANE Select	ENSP00000228606.4:p.Ile222Asn
ENST00000228606.8:c.665T>A	ENSP00000228606.4:p.Ile222Asn
ENST00000546567.5:c.-41T>A	ENSP00000449472.1:n.-41T>A
ENST00000546609.1:c.577T>A
ENST00000547344.5:n.804T>A
ENST00000547451.1:n.465T>A
NM_000785.3:c.665T>A	NP_000776.1:p.Ile222Asn
NM_000785.4:c.665T>A MANE Select	NP_000776.1:p.Ile222Asn