Canonical Allele Identifier: CA480269362

Gene: CYP27B1

Linked Data

• ClinVar Variation Id: 2865204
• ClinVar RCV Id: RCV003697663
• gnomAD v4: 12-57766017-G-A
• MyVariant Identifiers: chr12:g.58159800G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.288C>T
ENST00000713544.1:c.376C>T	ENSP00000518840.1:p.Leu126=
ENST00000713545.1:c.376C>T	ENSP00000518841.1:p.Leu126=
ENST00000228606.9:c.376C>T MANE Select	ENSP00000228606.4:p.Leu126=
ENST00000228606.8:c.376C>T	ENSP00000228606.4:p.Leu126=
ENST00000546496.1:n.204C>T
ENST00000546609.1:c.288C>T
ENST00000547344.5:n.430C>T
ENST00000552186.1:n.495C>T
NM_000785.3:c.376C>T	NP_000776.1:p.Leu126=
NM_000785.4:c.376C>T MANE Select	NP_000776.1:p.Leu126=