Canonical Allele Identifier: CA385505384

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158922A>G (hg19) ; chr12:g.57765139A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765139A>G , CM000674.2:g.57765139A>G	GRCh38
NC_000012.11:g.58158922A>G , CM000674.1:g.58158922A>G	GRCh37
NC_000012.10:g.56445189A>G	NCBI36
NG_007076.1:g.7055T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.574T>C
ENST00000713544.1:c.743T>C	ENSP00000518840.1:p.Phe248Ser
ENST00000713545.1:c.720T>C	ENSP00000518841.1:p.Leu240=
ENST00000228606.9:c.662T>C MANE Select	ENSP00000228606.4:p.Phe221Ser
ENST00000228606.8:c.662T>C	ENSP00000228606.4:p.Phe221Ser
ENST00000546567.5:c.-44T>C	ENSP00000449472.1:n.-44T>C
ENST00000546609.1:c.574T>C
ENST00000547344.5:n.801T>C
ENST00000547451.1:n.462T>C
NM_000785.3:c.662T>C	NP_000776.1:p.Phe221Ser
NM_000785.4:c.662T>C MANE Select	NP_000776.1:p.Phe221Ser