Canonical Allele Identifier: CA385505162

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765029-C-T
• MyVariant Identifiers: chr12:g.58158812C>T (hg19) ; chr12:g.57765029C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765029C>T , CM000674.2:g.57765029C>T	GRCh38
NC_000012.11:g.58158812C>T , CM000674.1:g.58158812C>T	GRCh37
NC_000012.10:g.56445079C>T	NCBI36
NG_007076.1:g.7165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.684G>A
ENST00000713544.1:c.853G>A	ENSP00000518840.1:p.Asp285Asn
ENST00000713545.1:c.830G>A	ENSP00000518841.1:p.Gly277Glu
ENST00000228606.9:c.772G>A MANE Select	ENSP00000228606.4:p.Asp258Asn
ENST00000228606.8:c.772G>A	ENSP00000228606.4:p.Asp258Asn
ENST00000546567.5:c.67G>A	ENSP00000449472.1:p.Asp23Asn
ENST00000546609.1:c.684G>A
ENST00000547344.5:n.911G>A
ENST00000547451.1:n.572G>A
NM_000785.3:c.772G>A	NP_000776.1:p.Asp258Asn
NM_000785.4:c.772G>A MANE Select	NP_000776.1:p.Asp258Asn