Canonical Allele Identifier: CA385504066

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158315A>T (hg19) ; chr12:g.57764532A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764532A>T , CM000674.2:g.57764532A>T	GRCh38
NC_000012.11:g.58158315A>T , CM000674.1:g.58158315A>T	GRCh37
NC_000012.10:g.56444582A>T	NCBI36
NG_007076.1:g.7662T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1063T>A	ENSP00000518840.1:p.Trp355Arg
ENST00000713545.1:c.1040T>A	ENSP00000518841.1:p.Leu347Ter
ENST00000228606.9:c.982T>A MANE Select	ENSP00000228606.4:p.Trp328Arg
ENST00000228606.8:c.982T>A	ENSP00000228606.4:p.Trp328Arg
ENST00000546567.5:c.277T>A	ENSP00000449472.1:p.Trp93Arg
ENST00000547344.5:n.1121T>A
NM_000785.3:c.982T>A	NP_000776.1:p.Trp328Arg
NM_000785.4:c.982T>A MANE Select	NP_000776.1:p.Trp328Arg