Canonical Allele Identifier: CA690329899

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1449300079
• MyVariant Identifiers: chr12:g.58158258_58158259del (hg19) ; chr12:g.57764475_57764476del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764478_57764479del , CM000674.2:g.57764478_57764479del	GRCh38
NC_000012.11:g.58158261_58158262del , CM000674.1:g.58158261_58158262del	GRCh37
NC_000012.10:g.56444528_56444529del	NCBI36
NG_007076.1:g.7718_7719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1119_1120del	ENSP00000518840.1:p.Glu373AspfsTer?
ENST00000713545.1:c.*43_*44del	ENSP00000518841.1:n.*43_*44del
ENST00000228606.9:c.1038_1039del MANE Select	ENSP00000228606.4:p.Glu346AspfsTer?
ENST00000228606.8:c.1038_1039del	ENSP00000228606.4:p.Glu346AspfsTer?
ENST00000546567.5:c.333_334del	ENSP00000449472.1:p.Glu111AspfsTer?
ENST00000547344.5:n.1177_1178del
NM_000785.3:c.1038_1039del	NP_000776.1:p.Glu346AspfsTer?
NM_000785.4:c.1038_1039del MANE Select	NP_000776.1:p.Glu346AspfsTer?