Canonical Allele Identifier: CA385502769

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1257931411
• gnomAD v2: 12-58157940-C-T
• gnomAD v4: 12-57764157-C-T
• MyVariant Identifiers: chr12:g.58157940C>T (hg19) ; chr12:g.57764157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764157C>T , CM000674.2:g.57764157C>T	GRCh38
NC_000012.11:g.58157940C>T , CM000674.1:g.58157940C>T	GRCh37
NC_000012.10:g.56444207C>T	NCBI36
NG_007076.1:g.8037G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000713544.1:c.1237G>A	ENSP00000518840.1:p.Gly413Arg
ENST00000713545.1:c.*161G>A	ENSP00000518841.1:n.*161G>A
ENST00000228606.9:c.1156G>A MANE Select	ENSP00000228606.4:p.Gly386Arg
ENST00000228606.8:c.1156G>A	ENSP00000228606.4:p.Gly386Arg
ENST00000546567.5:c.451G>A	ENSP00000449472.1:p.Gly151Arg
ENST00000547344.5:n.1295G>A
NM_000785.3:c.1156G>A	NP_000776.1:p.Gly386Arg
NM_000785.4:c.1156G>A MANE Select	NP_000776.1:p.Gly386Arg