Canonical Allele Identifier: CA385504032

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158308A>T (hg19) ; chr12:g.57764525A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764525A>T , CM000674.2:g.57764525A>T	GRCh38
NC_000012.11:g.58158308A>T , CM000674.1:g.58158308A>T	GRCh37
NC_000012.10:g.56444575A>T	NCBI36
NG_007076.1:g.7669T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1070T>A	ENSP00000518840.1:p.Leu357Gln
ENST00000713545.1:c.1047T>A	ENSP00000518841.1:p.Ser349=
ENST00000228606.9:c.989T>A MANE Select	ENSP00000228606.4:p.Leu330Gln
ENST00000228606.8:c.989T>A	ENSP00000228606.4:p.Leu330Gln
ENST00000546567.5:c.284T>A	ENSP00000449472.1:p.Leu95Gln
ENST00000547344.5:n.1128T>A
NM_000785.3:c.989T>A	NP_000776.1:p.Leu330Gln
NM_000785.4:c.989T>A MANE Select	NP_000776.1:p.Leu330Gln