Canonical Allele Identifier: CA480402099

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765075-C-T
• MyVariant Identifiers: chr12:g.58158858C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765075C>T , CM000674.2:g.57765075C>T	GRCh38
NC_000012.11:g.58158858C>T , CM000674.1:g.58158858C>T	GRCh37
NC_000012.10:g.56445125C>T	NCBI36
NG_007076.1:g.7119G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.638G>A
ENST00000713544.1:c.807G>A	ENSP00000518840.1:p.Leu269=
ENST00000713545.1:c.784G>A	ENSP00000518841.1:p.Ala262Thr
ENST00000228606.9:c.726G>A MANE Select	ENSP00000228606.4:p.Leu242=
ENST00000228606.8:c.726G>A	ENSP00000228606.4:p.Leu242=
ENST00000546567.5:c.21G>A	ENSP00000449472.1:p.Leu7=
ENST00000546609.1:c.638G>A
ENST00000547344.5:n.865G>A
ENST00000547451.1:n.526G>A
NM_000785.3:c.726G>A	NP_000776.1:p.Leu242=
NM_000785.4:c.726G>A MANE Select	NP_000776.1:p.Leu242=