Canonical Allele Identifier: CA385505252

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158859A>C (hg19) ; chr12:g.57765076A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765076A>C , CM000674.2:g.57765076A>C	GRCh38
NC_000012.11:g.58158859A>C , CM000674.1:g.58158859A>C	GRCh37
NC_000012.10:g.56445126A>C	NCBI36
NG_007076.1:g.7118T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.637T>G
ENST00000713544.1:c.806T>G	ENSP00000518840.1:p.Leu269Arg
ENST00000713545.1:c.783T>G	ENSP00000518841.1:p.Ala261=
ENST00000228606.9:c.725T>G MANE Select	ENSP00000228606.4:p.Leu242Arg
ENST00000228606.8:c.725T>G	ENSP00000228606.4:p.Leu242Arg
ENST00000546567.5:c.20T>G	ENSP00000449472.1:p.Leu7Arg
ENST00000546609.1:c.637T>G
ENST00000547344.5:n.864T>G
ENST00000547451.1:n.525T>G
NM_000785.3:c.725T>G	NP_000776.1:p.Leu242Arg
NM_000785.4:c.725T>G MANE Select	NP_000776.1:p.Leu242Arg