Canonical Allele Identifier: CA385501138

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58157536T>A (hg19) ; chr12:g.57763753T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763753T>A , CM000674.2:g.57763753T>A	GRCh38
NC_000012.11:g.58157536T>A , CM000674.1:g.58157536T>A	GRCh37
NC_000012.10:g.56443803T>A	NCBI36
NG_007076.1:g.8441A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1352A>T	ENSP00000518840.1:p.Glu451Val
ENST00000713545.1:c.*276A>T	ENSP00000518841.1:n.*276A>T
ENST00000228606.9:c.1271A>T MANE Select	ENSP00000228606.4:p.Glu424Val
ENST00000228606.8:c.1271A>T	ENSP00000228606.4:p.Glu424Val
ENST00000547344.5:n.1410A>T
NM_000785.3:c.1271A>T	NP_000776.1:p.Glu424Val
NM_000785.4:c.1271A>T MANE Select	NP_000776.1:p.Glu424Val