Canonical Allele Identifier: CA2619517966

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765657-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765662dup , CM000674.2:g.57765662dup	GRCh38
NC_000012.11:g.58159445dup , CM000674.1:g.58159445dup	GRCh37
NC_000012.10:g.56445712dup	NCBI36
NG_007076.1:g.6536dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-159dup
ENST00000713544.1:c.387-78dup	ENSP00000518840.1:n.387-78dup
ENST00000713545.1:c.387-101dup	ENSP00000518841.1:n.387-101dup
ENST00000228606.9:c.387-159dup MANE Select	ENSP00000228606.4:n.387-159dup
ENST00000228606.8:c.387-159dup	ENSP00000228606.4:n.387-159dup
ENST00000546496.1:n.215-159dup
ENST00000546567.5:c.-478dup	ENSP00000449472.1:n.-478dup
ENST00000546609.1:c.299-159dup
ENST00000547344.5:n.441-159dup
ENST00000547451.1:n.28dup
ENST00000552186.1:n.506-159dup
NM_000785.3:c.387-159dup	NP_000776.1:n.387-159dup
NM_000785.4:c.387-159dup MANE Select	NP_000776.1:n.387-159dup