Canonical Allele Identifier: CA385505249

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158856C>G (hg19) ; chr12:g.57765073C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765073C>G , CM000674.2:g.57765073C>G	GRCh38
NC_000012.11:g.58158856C>G , CM000674.1:g.58158856C>G	GRCh37
NC_000012.10:g.56445123C>G	NCBI36
NG_007076.1:g.7121G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.640G>C
ENST00000713544.1:c.809G>C	ENSP00000518840.1:p.Arg270Pro
ENST00000713545.1:c.786G>C	ENSP00000518841.1:p.Ala262=
ENST00000228606.9:c.728G>C MANE Select	ENSP00000228606.4:p.Arg243Pro
ENST00000228606.8:c.728G>C	ENSP00000228606.4:p.Arg243Pro
ENST00000546567.5:c.23G>C	ENSP00000449472.1:p.Arg8Pro
ENST00000546609.1:c.640G>C
ENST00000547344.5:n.867G>C
ENST00000547451.1:n.528G>C
NM_000785.3:c.728G>C	NP_000776.1:p.Arg243Pro
NM_000785.4:c.728G>C MANE Select	NP_000776.1:p.Arg243Pro