Canonical Allele Identifier: CA385505323

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158892G>T (hg19) ; chr12:g.57765109G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765109G>T , CM000674.2:g.57765109G>T	GRCh38
NC_000012.11:g.58158892G>T , CM000674.1:g.58158892G>T	GRCh37
NC_000012.10:g.56445159G>T	NCBI36
NG_007076.1:g.7085C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.604C>A
ENST00000713544.1:c.773C>A	ENSP00000518840.1:p.Ser258Tyr
ENST00000713545.1:c.750C>A	ENSP00000518841.1:p.Val250=
ENST00000228606.9:c.692C>A MANE Select	ENSP00000228606.4:p.Ser231Tyr
ENST00000228606.8:c.692C>A	ENSP00000228606.4:p.Ser231Tyr
ENST00000546567.5:c.-14C>A	ENSP00000449472.1:n.-14C>A
ENST00000546609.1:c.604C>A
ENST00000547344.5:n.831C>A
ENST00000547451.1:n.492C>A
NM_000785.3:c.692C>A	NP_000776.1:p.Ser231Tyr
NM_000785.4:c.692C>A MANE Select	NP_000776.1:p.Ser231Tyr