Canonical Allele Identifier: CA2519627519

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57766204-G-GAGCGGACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766214_57766222dup , CM000674.2:g.57766214_57766222dup	GRCh38
NC_000012.11:g.58159997_58160005dup , CM000674.1:g.58159997_58160005dup	GRCh37
NC_000012.10:g.56446264_56446272dup	NCBI36
NG_007076.1:g.5981_5989dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-16_108-8dup
ENST00000713544.1:c.196-16_196-8dup	ENSP00000518840.1:n.196-16_196-8dup
ENST00000713545.1:c.196-16_196-8dup	ENSP00000518841.1:n.196-16_196-8dup
ENST00000228606.9:c.196-16_196-8dup MANE Select	ENSP00000228606.4:n.196-16_196-8dup
ENST00000228606.8:c.196-16_196-8dup	ENSP00000228606.4:n.196-16_196-8dup
ENST00000546496.1:n.24-16_24-8dup
ENST00000546609.1:c.108-16_108-8dup
ENST00000547344.5:n.250-16_250-8dup
ENST00000552186.1:n.299_307dup
NM_000785.3:c.196-16_196-8dup	NP_000776.1:n.196-16_196-8dup
NM_000785.4:c.196-16_196-8dup MANE Select	NP_000776.1:n.196-16_196-8dup