Canonical Allele Identifier: CA605325522

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1320868827
• gnomAD v2: 12-58160007-T-TG
• gnomAD v4: 12-57766224-T-TG
• MyVariant Identifiers: chr12:g.58160007_58160008insG (hg19) ; chr12:g.57766224_57766225insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766226dup , CM000674.2:g.57766226dup	GRCh38
NC_000012.11:g.58160009dup , CM000674.1:g.58160009dup	GRCh37
NC_000012.10:g.56446276dup	NCBI36
NG_007076.1:g.5969dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-28dup
ENST00000713544.1:c.196-28dup	ENSP00000518840.1:n.196-28dup
ENST00000713545.1:c.196-28dup	ENSP00000518841.1:n.196-28dup
ENST00000228606.9:c.196-28dup MANE Select	ENSP00000228606.4:n.196-28dup
ENST00000228606.8:c.196-28dup	ENSP00000228606.4:n.196-28dup
ENST00000546496.1:n.24-28dup
ENST00000546609.1:c.108-28dup
ENST00000547344.5:n.250-28dup
ENST00000552186.1:n.287dup
NM_000785.3:c.196-28dup	NP_000776.1:n.196-28dup
NM_000785.4:c.196-28dup MANE Select	NP_000776.1:n.196-28dup