Canonical Allele Identifier: CA480402097

Gene: CYP27B1

Linked Data

• dbSNP Id: rs2140396932
• MyVariant Identifiers: chr12:g.58158855G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765072G>A , CM000674.2:g.57765072G>A	GRCh38
NC_000012.11:g.58158855G>A , CM000674.1:g.58158855G>A	GRCh37
NC_000012.10:g.56445122G>A	NCBI36
NG_007076.1:g.7122C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.641C>T
ENST00000713544.1:c.810C>T	ENSP00000518840.1:p.Arg270=
ENST00000713545.1:c.787C>T	ENSP00000518841.1:p.Pro263Ser
ENST00000228606.9:c.729C>T MANE Select	ENSP00000228606.4:p.Arg243=
ENST00000228606.8:c.729C>T	ENSP00000228606.4:p.Arg243=
ENST00000546567.5:c.24C>T	ENSP00000449472.1:p.Arg8=
ENST00000546609.1:c.641C>T
ENST00000547344.5:n.868C>T
ENST00000547451.1:n.529C>T
NM_000785.3:c.729C>T	NP_000776.1:p.Arg243=
NM_000785.4:c.729C>T MANE Select	NP_000776.1:p.Arg243=