Canonical Allele Identifier: CA2842823177

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765140dup , CM000674.2:g.57765140dup	GRCh38
NC_000012.11:g.58158923dup , CM000674.1:g.58158923dup	GRCh37
NC_000012.10:g.56445190dup	NCBI36
NG_007076.1:g.7055dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.574dup
ENST00000713544.1:c.743dup	ENSP00000518840.1:p.Ile249HisfsTer?
ENST00000713545.1:c.720dup	ENSP00000518841.1:p.His241SerfsTer14
ENST00000228606.9:c.662dup MANE Select	ENSP00000228606.4:p.Ile222HisfsTer?
ENST00000228606.8:c.662dup	ENSP00000228606.4:p.Ile222HisfsTer?
ENST00000546567.5:c.-44dup	ENSP00000449472.1:n.-44dup
ENST00000546609.1:c.574dup
ENST00000547344.5:n.801dup
ENST00000547451.1:n.462dup
NM_000785.3:c.662dup	NP_000776.1:p.Ile222HisfsTer?
NM_000785.4:c.662dup MANE Select	NP_000776.1:p.Ile222HisfsTer?