Canonical Allele Identifier: CA2575206626

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765976_57765983dup , CM000674.2:g.57765976_57765983dup	GRCh38
NC_000012.11:g.58159759_58159766dup , CM000674.1:g.58159759_58159766dup	GRCh37
NC_000012.10:g.56446026_56446033dup	NCBI36
NG_007076.1:g.6215_6222dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+28_298+35dup
ENST00000713544.1:c.386+28_386+35dup	ENSP00000518840.1:n.386+28_386+35dup
ENST00000713545.1:c.386+28_386+35dup	ENSP00000518841.1:n.386+28_386+35dup
ENST00000228606.9:c.386+28_386+35dup MANE Select	ENSP00000228606.4:n.386+28_386+35dup
ENST00000228606.8:c.386+28_386+35dup	ENSP00000228606.4:n.386+28_386+35dup
ENST00000546496.1:n.214+28_214+35dup
ENST00000546609.1:c.298+28_298+35dup
ENST00000547344.5:n.440+28_440+35dup
ENST00000552186.1:n.505+28_505+35dup
NM_000785.3:c.386+28_386+35dup	NP_000776.1:n.386+28_386+35dup
NM_000785.4:c.386+28_386+35dup MANE Select	NP_000776.1:n.386+28_386+35dup