Canonical Allele Identifier: CA385505380

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1416494198
• gnomAD v3: 12-57765137-T-C
• gnomAD v4: 12-57765137-T-C
• MyVariant Identifiers: chr12:g.58158920T>C (hg19) ; chr12:g.57765137T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765137T>C , CM000674.2:g.57765137T>C	GRCh38
NC_000012.11:g.58158920T>C , CM000674.1:g.58158920T>C	GRCh37
NC_000012.10:g.56445187T>C	NCBI36
NG_007076.1:g.7057A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.576A>G
ENST00000713544.1:c.745A>G	ENSP00000518840.1:p.Ile249Val
ENST00000713545.1:c.722A>G	ENSP00000518841.1:p.His241Arg
ENST00000228606.9:c.664A>G MANE Select	ENSP00000228606.4:p.Ile222Val
ENST00000228606.8:c.664A>G	ENSP00000228606.4:p.Ile222Val
ENST00000546567.5:c.-42A>G	ENSP00000449472.1:n.-42A>G
ENST00000546609.1:c.576A>G
ENST00000547344.5:n.803A>G
ENST00000547451.1:n.464A>G
NM_000785.3:c.664A>G	NP_000776.1:p.Ile222Val
NM_000785.4:c.664A>G MANE Select	NP_000776.1:p.Ile222Val