Canonical Allele Identifier: CA385505270

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158866G>A (hg19) ; chr12:g.57765083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765083G>A , CM000674.2:g.57765083G>A	GRCh38
NC_000012.11:g.58158866G>A , CM000674.1:g.58158866G>A	GRCh37
NC_000012.10:g.56445133G>A	NCBI36
NG_007076.1:g.7111C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.630C>T
ENST00000713544.1:c.799C>T	ENSP00000518840.1:p.His267Tyr
ENST00000713545.1:c.776C>T	ENSP00000518841.1:p.Pro259Leu
ENST00000228606.9:c.718C>T MANE Select	ENSP00000228606.4:p.His240Tyr
ENST00000228606.8:c.718C>T	ENSP00000228606.4:p.His240Tyr
ENST00000546567.5:c.13C>T	ENSP00000449472.1:p.His5Tyr
ENST00000546609.1:c.630C>T
ENST00000547344.5:n.857C>T
ENST00000547451.1:n.518C>T
NM_000785.3:c.718C>T	NP_000776.1:p.His240Tyr
NM_000785.4:c.718C>T MANE Select	NP_000776.1:p.His240Tyr