Canonical Allele Identifier: CA2554250778

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765654C>G , CM000674.2:g.57765654C>G	GRCh38
NC_000012.11:g.58159437C>G , CM000674.1:g.58159437C>G	GRCh37
NC_000012.10:g.56445704C>G	NCBI36
NG_007076.1:g.6540G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-155G>C
ENST00000713544.1:c.387-74G>C	ENSP00000518840.1:n.387-74G>C
ENST00000713545.1:c.387-97G>C	ENSP00000518841.1:n.387-97G>C
ENST00000228606.9:c.387-155G>C MANE Select	ENSP00000228606.4:n.387-155G>C
ENST00000228606.8:c.387-155G>C	ENSP00000228606.4:n.387-155G>C
ENST00000546496.1:n.215-155G>C
ENST00000546567.5:c.-474G>C	ENSP00000449472.1:n.-474G>C
ENST00000546609.1:c.299-155G>C
ENST00000547344.5:n.441-155G>C
ENST00000547451.1:n.32G>C
ENST00000552186.1:n.506-155G>C
NM_000785.3:c.387-155G>C	NP_000776.1:n.387-155G>C
NM_000785.4:c.387-155G>C MANE Select	NP_000776.1:n.387-155G>C