Canonical Allele Identifier: CA385505346

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158902C>T (hg19) ; chr12:g.57765119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765119C>T , CM000674.2:g.57765119C>T	GRCh38
NC_000012.11:g.58158902C>T , CM000674.1:g.58158902C>T	GRCh37
NC_000012.10:g.56445169C>T	NCBI36
NG_007076.1:g.7075G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.594G>A
ENST00000713544.1:c.763G>A	ENSP00000518840.1:p.Val255Met
ENST00000713545.1:c.740G>A	ENSP00000518841.1:p.Gly247Asp
ENST00000228606.9:c.682G>A MANE Select	ENSP00000228606.4:p.Val228Met
ENST00000228606.8:c.682G>A	ENSP00000228606.4:p.Val228Met
ENST00000546567.5:c.-24G>A	ENSP00000449472.1:n.-24G>A
ENST00000546609.1:c.594G>A
ENST00000547344.5:n.821G>A
ENST00000547451.1:n.482G>A
NM_000785.3:c.682G>A	NP_000776.1:p.Val228Met
NM_000785.4:c.682G>A MANE Select	NP_000776.1:p.Val228Met