Canonical Allele Identifier: CA2575206601

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765277A>C , CM000674.2:g.57765277A>C	GRCh38
NC_000012.11:g.58159060A>C , CM000674.1:g.58159060A>C	GRCh37
NC_000012.10:g.56445327A>C	NCBI36
NG_007076.1:g.6917T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.501+20T>G
ENST00000713544.1:c.670+20T>G	ENSP00000518840.1:n.670+20T>G
ENST00000713545.1:c.647+20T>G	ENSP00000518841.1:n.647+20T>G
ENST00000228606.9:c.589+20T>G MANE Select	ENSP00000228606.4:n.589+20T>G
ENST00000228606.8:c.589+20T>G	ENSP00000228606.4:n.589+20T>G
ENST00000546567.5:c.-117+20T>G	ENSP00000449472.1:n.-117+20T>G
ENST00000546609.1:c.501+20T>G
ENST00000547344.5:n.663T>G
ENST00000547451.1:n.389+20T>G
NM_000785.3:c.589+20T>G	NP_000776.1:n.589+20T>G
NM_000785.4:c.589+20T>G MANE Select	NP_000776.1:n.589+20T>G