Canonical Allele Identifier: CA385505506

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158955A>G (hg19) ; chr12:g.57765172A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765172A>G , CM000674.2:g.57765172A>G	GRCh38
NC_000012.11:g.58158955A>G , CM000674.1:g.58158955A>G	GRCh37
NC_000012.10:g.56445222A>G	NCBI36
NG_007076.1:g.7022T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.541T>C
ENST00000713544.1:c.710T>C	ENSP00000518840.1:p.Leu237Pro
ENST00000713545.1:c.687T>C	ENSP00000518841.1:p.Pro229=
ENST00000228606.9:c.629T>C MANE Select	ENSP00000228606.4:p.Leu210Pro
ENST00000228606.8:c.629T>C	ENSP00000228606.4:p.Leu210Pro
ENST00000546567.5:c.-77T>C	ENSP00000449472.1:n.-77T>C
ENST00000546609.1:c.541T>C
ENST00000547344.5:n.768T>C
ENST00000547451.1:n.429T>C
NM_000785.3:c.629T>C	NP_000776.1:p.Leu210Pro
NM_000785.4:c.629T>C MANE Select	NP_000776.1:p.Leu210Pro