Canonical Allele Identifier: CA385505262

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1261436439
• gnomAD v2: 12-58158863-A-G
• gnomAD v4: 12-57765080-A-G
• MyVariant Identifiers: chr12:g.58158863A>G (hg19) ; chr12:g.57765080A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765080A>G , CM000674.2:g.57765080A>G	GRCh38
NC_000012.11:g.58158863A>G , CM000674.1:g.58158863A>G	GRCh37
NC_000012.10:g.56445130A>G	NCBI36
NG_007076.1:g.7114T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.633T>C
ENST00000713544.1:c.802T>C	ENSP00000518840.1:p.Trp268Arg
ENST00000713545.1:c.779T>C	ENSP00000518841.1:p.Leu260Pro
ENST00000228606.9:c.721T>C MANE Select	ENSP00000228606.4:p.Trp241Arg
ENST00000228606.8:c.721T>C	ENSP00000228606.4:p.Trp241Arg
ENST00000546567.5:c.16T>C	ENSP00000449472.1:p.Trp6Arg
ENST00000546609.1:c.633T>C
ENST00000547344.5:n.860T>C
ENST00000547451.1:n.521T>C
NM_000785.3:c.721T>C	NP_000776.1:p.Trp241Arg
NM_000785.4:c.721T>C MANE Select	NP_000776.1:p.Trp241Arg