Canonical Allele Identifier: CA480402096

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158855G>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.641C>G
ENST00000713544.1:c.810C>G	ENSP00000518840.1:p.Arg270=
ENST00000713545.1:c.787C>G	ENSP00000518841.1:p.Pro263Ala
ENST00000228606.9:c.729C>G MANE Select	ENSP00000228606.4:p.Arg243=
ENST00000228606.8:c.729C>G	ENSP00000228606.4:p.Arg243=
ENST00000546567.5:c.24C>G	ENSP00000449472.1:p.Arg8=
ENST00000546609.1:c.641C>G
ENST00000547344.5:n.868C>G
ENST00000547451.1:n.529C>G
NM_000785.3:c.729C>G	NP_000776.1:p.Arg243=
NM_000785.4:c.729C>G MANE Select	NP_000776.1:p.Arg243=