Canonical Allele Identifier: CA690331867

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1481163627
• gnomAD v3: 12-57765993-CAG-C
• gnomAD v4: 12-57765993-CAG-C
• MyVariant Identifiers: chr12:g.58159777_58159778del (hg19) ; chr12:g.57765994_57765995del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765997_57765998del , CM000674.2:g.57765997_57765998del	GRCh38
NC_000012.11:g.58159780_58159781del , CM000674.1:g.58159780_58159781del	GRCh37
NC_000012.10:g.56446047_56446048del	NCBI36
NG_007076.1:g.6199_6200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+12_298+13del
ENST00000713544.1:c.386+12_386+13del	ENSP00000518840.1:n.386+12_386+13del
ENST00000713545.1:c.386+12_386+13del	ENSP00000518841.1:n.386+12_386+13del
ENST00000228606.9:c.386+12_386+13del MANE Select	ENSP00000228606.4:n.386+12_386+13del
ENST00000228606.8:c.386+12_386+13del	ENSP00000228606.4:n.386+12_386+13del
ENST00000546496.1:n.214+12_214+13del
ENST00000546609.1:c.298+12_298+13del
ENST00000547344.5:n.440+12_440+13del
ENST00000552186.1:n.505+12_505+13del
NM_000785.3:c.386+12_386+13del	NP_000776.1:n.386+12_386+13del
NM_000785.4:c.386+12_386+13del MANE Select	NP_000776.1:n.386+12_386+13del