Canonical Allele Identifier: CA385505359

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158908C>T (hg19) ; chr12:g.57765125C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765125C>T , CM000674.2:g.57765125C>T	GRCh38
NC_000012.11:g.58158908C>T , CM000674.1:g.58158908C>T	GRCh37
NC_000012.10:g.56445175C>T	NCBI36
NG_007076.1:g.7069G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.588G>A
ENST00000713544.1:c.757G>A	ENSP00000518840.1:p.Gly253Ser
ENST00000713545.1:c.734G>A	ENSP00000518841.1:p.Gly245Glu
ENST00000228606.9:c.676G>A MANE Select	ENSP00000228606.4:p.Gly226Ser
ENST00000228606.8:c.676G>A	ENSP00000228606.4:p.Gly226Ser
ENST00000546567.5:c.-30G>A	ENSP00000449472.1:n.-30G>A
ENST00000546609.1:c.588G>A
ENST00000547344.5:n.815G>A
ENST00000547451.1:n.476G>A
NM_000785.3:c.676G>A	NP_000776.1:p.Gly226Ser
NM_000785.4:c.676G>A MANE Select	NP_000776.1:p.Gly226Ser