Canonical Allele Identifier: CA919097522

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1565811555

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765705_57765711dup , CM000674.2:g.57765705_57765711dup	GRCh38
NC_000012.11:g.58159488_58159494dup , CM000674.1:g.58159488_58159494dup	GRCh37
NC_000012.10:g.56445755_56445761dup	NCBI36
NG_007076.1:g.6484_6490dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-211_299-205dup
ENST00000713544.1:c.387-130_387-124dup	ENSP00000518840.1:n.387-130_387-124dup
ENST00000713545.1:c.387-153_387-147dup	ENSP00000518841.1:n.387-153_387-147dup
ENST00000228606.9:c.387-211_387-205dup MANE Select	ENSP00000228606.4:n.387-211_387-205dup
ENST00000228606.8:c.387-211_387-205dup	ENSP00000228606.4:n.387-211_387-205dup
ENST00000546496.1:n.215-211_215-205dup
ENST00000546609.1:c.299-211_299-205dup
ENST00000547344.5:n.441-211_441-205dup
ENST00000552186.1:n.506-211_506-205dup
NM_000785.3:c.387-211_387-205dup	NP_000776.1:n.387-211_387-205dup
NM_000785.4:c.387-211_387-205dup MANE Select	NP_000776.1:n.387-211_387-205dup