Canonical Allele Identifier: CA385505141

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158804C>T (hg19) ; chr12:g.57765021C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765021C>T , CM000674.2:g.57765021C>T	GRCh38
NC_000012.11:g.58158804C>T , CM000674.1:g.58158804C>T	GRCh37
NC_000012.10:g.56445071C>T	NCBI36
NG_007076.1:g.7173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.692G>A
ENST00000713544.1:c.861G>A	ENSP00000518840.1:p.Met287Ile
ENST00000713545.1:c.838G>A	ENSP00000518841.1:p.Val280Ile
ENST00000228606.9:c.780G>A MANE Select	ENSP00000228606.4:p.Met260Ile
ENST00000228606.8:c.780G>A	ENSP00000228606.4:p.Met260Ile
ENST00000546567.5:c.75G>A	ENSP00000449472.1:p.Met25Ile
ENST00000546609.1:c.692G>A
ENST00000547344.5:n.919G>A
ENST00000547451.1:n.580G>A
NM_000785.3:c.780G>A	NP_000776.1:p.Met260Ile
NM_000785.4:c.780G>A MANE Select	NP_000776.1:p.Met260Ile