Canonical Allele Identifier: CA385505251

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158857G>T (hg19) ; chr12:g.57765074G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765074G>T , CM000674.2:g.57765074G>T	GRCh38
NC_000012.11:g.58158857G>T , CM000674.1:g.58158857G>T	GRCh37
NC_000012.10:g.56445124G>T	NCBI36
NG_007076.1:g.7120C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.639C>A
ENST00000713544.1:c.808C>A	ENSP00000518840.1:p.Arg270Ser
ENST00000713545.1:c.785C>A	ENSP00000518841.1:p.Ala262Glu
ENST00000228606.9:c.727C>A MANE Select	ENSP00000228606.4:p.Arg243Ser
ENST00000228606.8:c.727C>A	ENSP00000228606.4:p.Arg243Ser
ENST00000546567.5:c.22C>A	ENSP00000449472.1:p.Arg8Ser
ENST00000546609.1:c.639C>A
ENST00000547344.5:n.866C>A
ENST00000547451.1:n.527C>A
NM_000785.3:c.727C>A	NP_000776.1:p.Arg243Ser
NM_000785.4:c.727C>A MANE Select	NP_000776.1:p.Arg243Ser