Canonical Allele Identifier: CA690331736

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1283807217
• MyVariant Identifiers: chr12:g.58159554C>G (hg19) ; chr12:g.57765771C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765771C>G , CM000674.2:g.57765771C>G	GRCh38
NC_000012.11:g.58159554C>G , CM000674.1:g.58159554C>G	GRCh37
NC_000012.10:g.56445821C>G	NCBI36
NG_007076.1:g.6423G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+236G>C
ENST00000713544.1:c.387-191G>C	ENSP00000518840.1:n.387-191G>C
ENST00000713545.1:c.387-214G>C	ENSP00000518841.1:n.387-214G>C
ENST00000228606.9:c.386+236G>C MANE Select	ENSP00000228606.4:n.386+236G>C
ENST00000228606.8:c.386+236G>C	ENSP00000228606.4:n.386+236G>C
ENST00000546496.1:n.214+236G>C
ENST00000546609.1:c.298+236G>C
ENST00000547344.5:n.440+236G>C
ENST00000552186.1:n.505+236G>C
NM_000785.3:c.386+236G>C	NP_000776.1:n.386+236G>C
NM_000785.4:c.386+236G>C MANE Select	NP_000776.1:n.386+236G>C