Canonical Allele Identifier: CA385507207

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765483G>A , CM000674.2:g.57765483G>A	GRCh38
NC_000012.11:g.58159266G>A , CM000674.1:g.58159266G>A	GRCh37
NC_000012.10:g.56445533G>A	NCBI36
NG_007076.1:g.6711C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000785.4:c.403C>T MANE Select	NP_000776.1:p.Gln135Ter
ENST00000228606.9:c.403C>T MANE Select	ENSP00000228606.4:p.Gln135Ter
NM_000785.3:c.403C>T	NP_000776.1:p.Gln135Ter
ENST00000228606.8:c.403C>T	ENSP00000228606.4:p.Gln135Ter
ENST00000546496.1:n.231C>T
ENST00000546567.5:c.-303C>T	ENSP00000449472.1:n.-303C>T
ENST00000546609.1:c.315C>T
ENST00000546609.2:n.315C>T
ENST00000547344.5:n.457C>T
ENST00000547451.1:n.203C>T
ENST00000552186.1:n.522C>T
ENST00000713544.1:c.484C>T	ENSP00000518840.1:p.Gln162Ter
ENST00000713545.1:c.461C>T	ENSP00000518841.1:p.Ala154Val