Canonical Allele Identifier: CA385505161

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158812C>G (hg19) ; chr12:g.57765029C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765029C>G , CM000674.2:g.57765029C>G	GRCh38
NC_000012.11:g.58158812C>G , CM000674.1:g.58158812C>G	GRCh37
NC_000012.10:g.56445079C>G	NCBI36
NG_007076.1:g.7165G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.684G>C
ENST00000713544.1:c.853G>C	ENSP00000518840.1:p.Asp285His
ENST00000713545.1:c.830G>C	ENSP00000518841.1:p.Gly277Ala
ENST00000228606.9:c.772G>C MANE Select	ENSP00000228606.4:p.Asp258His
ENST00000228606.8:c.772G>C	ENSP00000228606.4:p.Asp258His
ENST00000546567.5:c.67G>C	ENSP00000449472.1:p.Asp23His
ENST00000546609.1:c.684G>C
ENST00000547344.5:n.911G>C
ENST00000547451.1:n.572G>C
NM_000785.3:c.772G>C	NP_000776.1:p.Asp258His
NM_000785.4:c.772G>C MANE Select	NP_000776.1:p.Asp258His