Canonical Allele Identifier: CA6658363

Gene: CYP27B1

Linked Data

• dbSNP Id: rs778534360
• ExAC: 12:58158927 CT / C
• gnomAD v2: 12-58158927-CT-C
• gnomAD v3: 12-57765144-CT-C
• gnomAD v4: 12-57765144-CT-C
• MyVariant Identifiers: chr12:g.58158928del (hg19) ; chr12:g.57765145del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765145del , CM000674.2:g.57765145del	GRCh38
NC_000012.11:g.58158928del , CM000674.1:g.58158928del	GRCh37
NC_000012.10:g.56445195del	NCBI36
NG_007076.1:g.7049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.568del
ENST00000713544.1:c.737del	ENSP00000518840.1:p.Glu246GlyfsTer16
ENST00000713545.1:c.714del	ENSP00000518841.1:p.Asp239ThrfsTer?
ENST00000228606.9:c.656del MANE Select	ENSP00000228606.4:p.Glu219GlyfsTer16
ENST00000228606.8:c.656del	ENSP00000228606.4:p.Glu219GlyfsTer16
ENST00000546567.5:c.-50del	ENSP00000449472.1:n.-50del
ENST00000546609.1:c.568del
ENST00000547344.5:n.795del
ENST00000547451.1:n.456del
NM_000785.3:c.656del	NP_000776.1:p.Glu219GlyfsTer16
NM_000785.4:c.656del MANE Select	NP_000776.1:p.Glu219GlyfsTer16