Canonical Allele Identifier: CA385505122

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158797A>G (hg19) ; chr12:g.57765014A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765014A>G , CM000674.2:g.57765014A>G	GRCh38
NC_000012.11:g.58158797A>G , CM000674.1:g.58158797A>G	GRCh37
NC_000012.10:g.56445064A>G	NCBI36
NG_007076.1:g.7180T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.699T>C
ENST00000713544.1:c.868T>C	ENSP00000518840.1:p.Phe290Leu
ENST00000713545.1:c.845T>C	ENSP00000518841.1:p.Ile282Thr
ENST00000228606.9:c.787T>C MANE Select	ENSP00000228606.4:p.Phe263Leu
ENST00000228606.8:c.787T>C	ENSP00000228606.4:p.Phe263Leu
ENST00000546567.5:c.82T>C	ENSP00000449472.1:p.Phe28Leu
ENST00000546609.1:c.699T>C
ENST00000547344.5:n.926T>C
ENST00000547451.1:n.587T>C
NM_000785.3:c.787T>C	NP_000776.1:p.Phe263Leu
NM_000785.4:c.787T>C MANE Select	NP_000776.1:p.Phe263Leu