Canonical Allele Identifier: CA480403190

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158954C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765171C>A , CM000674.2:g.57765171C>A	GRCh38
NC_000012.11:g.58158954C>A , CM000674.1:g.58158954C>A	GRCh37
NC_000012.10:g.56445221C>A	NCBI36
NG_007076.1:g.7023G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.542G>T
ENST00000713544.1:c.711G>T	ENSP00000518840.1:p.Leu237=
ENST00000713545.1:c.688G>T	ENSP00000518841.1:p.Gly230Ter
ENST00000228606.9:c.630G>T MANE Select	ENSP00000228606.4:p.Leu210=
ENST00000228606.8:c.630G>T	ENSP00000228606.4:p.Leu210=
ENST00000546567.5:c.-76G>T	ENSP00000449472.1:n.-76G>T
ENST00000546609.1:c.542G>T
ENST00000547344.5:n.769G>T
ENST00000547451.1:n.430G>T
NM_000785.3:c.630G>T	NP_000776.1:p.Leu210=
NM_000785.4:c.630G>T MANE Select	NP_000776.1:p.Leu210=