Canonical Allele Identifier: CA605325500

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1363167632
• gnomAD v2: 12-58159935-CA-C
• gnomAD v4: 12-57766152-CA-C
• MyVariant Identifiers: chr12:g.58159936del (hg19) ; chr12:g.57766153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766155del , CM000674.2:g.57766155del	GRCh38
NC_000012.11:g.58159938del , CM000674.1:g.58159938del	GRCh37
NC_000012.10:g.56446205del	NCBI36
NG_007076.1:g.6041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.152del
ENST00000713544.1:c.240del	ENSP00000518840.1:p.Phe80LeufsTer?
ENST00000713545.1:c.240del	ENSP00000518841.1:p.Phe80LeufsTer?
ENST00000228606.9:c.240del MANE Select	ENSP00000228606.4:p.Phe80LeufsTer?
ENST00000228606.8:c.240del	ENSP00000228606.4:p.Phe80LeufsTer?
ENST00000546496.1:n.68del
ENST00000546609.1:c.152del
ENST00000547344.5:n.294del
ENST00000552186.1:n.359del
NM_000785.3:c.240del	NP_000776.1:p.Phe80LeufsTer?
NM_000785.4:c.240del MANE Select	NP_000776.1:p.Phe80LeufsTer?