Canonical Allele Identifier: CA385505256

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158860G>T (hg19) ; chr12:g.57765077G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765077G>T , CM000674.2:g.57765077G>T	GRCh38
NC_000012.11:g.58158860G>T , CM000674.1:g.58158860G>T	GRCh37
NC_000012.10:g.56445127G>T	NCBI36
NG_007076.1:g.7117C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.636C>A
ENST00000713544.1:c.805C>A	ENSP00000518840.1:p.Leu269Met
ENST00000713545.1:c.782C>A	ENSP00000518841.1:p.Ala261Asp
ENST00000228606.9:c.724C>A MANE Select	ENSP00000228606.4:p.Leu242Met
ENST00000228606.8:c.724C>A	ENSP00000228606.4:p.Leu242Met
ENST00000546567.5:c.19C>A	ENSP00000449472.1:p.Leu7Met
ENST00000546609.1:c.636C>A
ENST00000547344.5:n.863C>A
ENST00000547451.1:n.524C>A
NM_000785.3:c.724C>A	NP_000776.1:p.Leu242Met
NM_000785.4:c.724C>A MANE Select	NP_000776.1:p.Leu242Met