Canonical Allele Identifier: CA385508230

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57766122-G-T
• MyVariant Identifiers: chr12:g.58159905G>T (hg19) ; chr12:g.57766122G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766122G>T , CM000674.2:g.57766122G>T	GRCh38
NC_000012.11:g.58159905G>T , CM000674.1:g.58159905G>T	GRCh37
NC_000012.10:g.56446172G>T	NCBI36
NG_007076.1:g.6072C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.183C>A
ENST00000713544.1:c.271C>A	ENSP00000518840.1:p.Pro91Thr
ENST00000713545.1:c.271C>A	ENSP00000518841.1:p.Pro91Thr
ENST00000228606.9:c.271C>A MANE Select	ENSP00000228606.4:p.Pro91Thr
ENST00000228606.8:c.271C>A	ENSP00000228606.4:p.Pro91Thr
ENST00000546496.1:n.99C>A
ENST00000546609.1:c.183C>A
ENST00000547344.5:n.325C>A
ENST00000552186.1:n.390C>A
NM_000785.3:c.271C>A	NP_000776.1:p.Pro91Thr
NM_000785.4:c.271C>A MANE Select	NP_000776.1:p.Pro91Thr