Canonical Allele Identifier: CA480269248

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1565810563
• gnomAD v2: 12-58157485-T-TGG
• gnomAD v4: 12-57763702-T-TGG
• MyVariant Identifiers: chr12:g.58157492_58157546delinsGGTGGGACCCTCCCCCAGCCAGCGAGCTGGACGAAAAGAATTTGGCTCTGGGAACTG (hg19) ; chr12:g.58157485_58157486insGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763707_57763708dup , CM000674.2:g.57763707_57763708dup	GRCh38
NC_000012.11:g.58157490_58157491dup , CM000674.1:g.58157490_58157491dup	GRCh37
NC_000012.10:g.56443757_56443758dup	NCBI36
NG_007076.1:g.8490_8491dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000713544.1:c.1401_1402dup	ENSP00000518840.1:p.His468ProfsTer?
ENST00000713545.1:c.*325_*326dup	ENSP00000518841.1:n.*325_*326dup
ENST00000228606.9:c.1320_1321dup MANE Select	ENSP00000228606.4:p.His441ProfsTer?
ENST00000228606.8:c.1320_1321dup	ENSP00000228606.4:p.His441ProfsTer?
ENST00000547344.5:n.1459_1460dup
NM_000785.3:c.1320_1321dup	NP_000776.1:p.His441ProfsTer?
NM_000785.4:c.1320_1321dup MANE Select	NP_000776.1:p.His441ProfsTer?