Canonical Allele Identifier: CA385509289

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1172880350
• gnomAD v2: 12-58159914-C-T
• gnomAD v4: 12-57766131-C-T
• MyVariant Identifiers: chr12:g.58159914C>T (hg19) ; chr12:g.57766131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766131C>T , CM000674.2:g.57766131C>T	GRCh38
NC_000012.11:g.58159914C>T , CM000674.1:g.58159914C>T	GRCh37
NC_000012.10:g.56446181C>T	NCBI36
NG_007076.1:g.6063G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.174G>A
ENST00000713544.1:c.262G>A	ENSP00000518840.1:p.Val88Met
ENST00000713545.1:c.262G>A	ENSP00000518841.1:p.Val88Met
ENST00000228606.9:c.262G>A MANE Select	ENSP00000228606.4:p.Val88Met
ENST00000228606.8:c.262G>A	ENSP00000228606.4:p.Val88Met
ENST00000546496.1:n.90G>A
ENST00000546609.1:c.174G>A
ENST00000547344.5:n.316G>A
ENST00000552186.1:n.381G>A
NM_000785.3:c.262G>A	NP_000776.1:p.Val88Met
NM_000785.4:c.262G>A MANE Select	NP_000776.1:p.Val88Met