Canonical Allele Identifier: CA480402098

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158858C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765075C>A , CM000674.2:g.57765075C>A	GRCh38
NC_000012.11:g.58158858C>A , CM000674.1:g.58158858C>A	GRCh37
NC_000012.10:g.56445125C>A	NCBI36
NG_007076.1:g.7119G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.638G>T
ENST00000713544.1:c.807G>T	ENSP00000518840.1:p.Leu269=
ENST00000713545.1:c.784G>T	ENSP00000518841.1:p.Ala262Ser
ENST00000228606.9:c.726G>T MANE Select	ENSP00000228606.4:p.Leu242=
ENST00000228606.8:c.726G>T	ENSP00000228606.4:p.Leu242=
ENST00000546567.5:c.21G>T	ENSP00000449472.1:p.Leu7=
ENST00000546609.1:c.638G>T
ENST00000547344.5:n.865G>T
ENST00000547451.1:n.526G>T
NM_000785.3:c.726G>T	NP_000776.1:p.Leu242=
NM_000785.4:c.726G>T MANE Select	NP_000776.1:p.Leu242=