Canonical Allele Identifier: CA6658417

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765375G>A , CM000674.2:g.57765375G>A	GRCh38
NC_000012.11:g.58159158G>A , CM000674.1:g.58159158G>A	GRCh37
NC_000012.10:g.56445425G>A	NCBI36
NG_007076.1:g.6819C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000785.4:c.511C>T MANE Select	NP_000776.1:p.Arg171Cys
ENST00000228606.9:c.511C>T MANE Select	ENSP00000228606.4:p.Arg171Cys
NM_000785.3:c.511C>T	NP_000776.1:p.Arg171Cys
ENST00000228606.8:c.511C>T	ENSP00000228606.4:p.Arg171Cys
ENST00000546567.5:c.-195C>T	ENSP00000449472.1:n.-195C>T
ENST00000546609.1:c.423C>T
ENST00000546609.2:n.423C>T
ENST00000547344.5:n.565C>T
ENST00000547451.1:n.311C>T
ENST00000713544.1:c.592C>T	ENSP00000518840.1:p.Arg198Cys
ENST00000713545.1:c.569C>T	ENSP00000518841.1:p.Ala190Val