Canonical Allele Identifier: CA480402062

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765015-T-C
• MyVariant Identifiers: chr12:g.58158798T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765015T>C , CM000674.2:g.57765015T>C	GRCh38
NC_000012.11:g.58158798T>C , CM000674.1:g.58158798T>C	GRCh37
NC_000012.10:g.56445065T>C	NCBI36
NG_007076.1:g.7179A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.698A>G
ENST00000713544.1:c.867A>G	ENSP00000518840.1:p.Ala289=
ENST00000713545.1:c.844A>G	ENSP00000518841.1:p.Ile282Val
ENST00000228606.9:c.786A>G MANE Select	ENSP00000228606.4:p.Ala262=
ENST00000228606.8:c.786A>G	ENSP00000228606.4:p.Ala262=
ENST00000546567.5:c.81A>G	ENSP00000449472.1:p.Ala27=
ENST00000546609.1:c.698A>G
ENST00000547344.5:n.925A>G
ENST00000547451.1:n.586A>G
NM_000785.3:c.786A>G	NP_000776.1:p.Ala262=
NM_000785.4:c.786A>G MANE Select	NP_000776.1:p.Ala262=