Canonical Allele Identifier: CA385504046

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158311G>T (hg19) ; chr12:g.57764528G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764528G>T , CM000674.2:g.57764528G>T	GRCh38
NC_000012.11:g.58158311G>T , CM000674.1:g.58158311G>T	GRCh37
NC_000012.10:g.56444578G>T	NCBI36
NG_007076.1:g.7666C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1067C>A	ENSP00000518840.1:p.Ala356Asp
ENST00000713545.1:c.1044C>A	ENSP00000518841.1:p.Gly348=
ENST00000228606.9:c.986C>A MANE Select	ENSP00000228606.4:p.Ala329Asp
ENST00000228606.8:c.986C>A	ENSP00000228606.4:p.Ala329Asp
ENST00000546567.5:c.281C>A	ENSP00000449472.1:p.Ala94Asp
ENST00000547344.5:n.1125C>A
NM_000785.3:c.986C>A	NP_000776.1:p.Ala329Asp
NM_000785.4:c.986C>A MANE Select	NP_000776.1:p.Ala329Asp