Canonical Allele Identifier: CA385507588

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57766017-G-T
• MyVariant Identifiers: chr12:g.58159800G>T (hg19) ; chr12:g.57766017G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766017G>T , CM000674.2:g.57766017G>T	GRCh38
NC_000012.11:g.58159800G>T , CM000674.1:g.58159800G>T	GRCh37
NC_000012.10:g.56446067G>T	NCBI36
NG_007076.1:g.6177C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.288C>A
ENST00000713544.1:c.376C>A	ENSP00000518840.1:p.Leu126Met
ENST00000713545.1:c.376C>A	ENSP00000518841.1:p.Leu126Met
ENST00000228606.9:c.376C>A MANE Select	ENSP00000228606.4:p.Leu126Met
ENST00000228606.8:c.376C>A	ENSP00000228606.4:p.Leu126Met
ENST00000546496.1:n.204C>A
ENST00000546609.1:c.288C>A
ENST00000547344.5:n.430C>A
ENST00000552186.1:n.495C>A
NM_000785.3:c.376C>A	NP_000776.1:p.Leu126Met
NM_000785.4:c.376C>A MANE Select	NP_000776.1:p.Leu126Met