Canonical Allele Identifier: CA385505515

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158957G>T (hg19) ; chr12:g.57765174G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765174G>T , CM000674.2:g.57765174G>T	GRCh38
NC_000012.11:g.58158957G>T , CM000674.1:g.58158957G>T	GRCh37
NC_000012.10:g.56445224G>T	NCBI36
NG_007076.1:g.7020C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.539C>A
ENST00000713544.1:c.708C>A	ENSP00000518840.1:p.Cys236Ter
ENST00000713545.1:c.685C>A	ENSP00000518841.1:p.Pro229Thr
ENST00000228606.9:c.627C>A MANE Select	ENSP00000228606.4:p.Cys209Ter
ENST00000228606.8:c.627C>A	ENSP00000228606.4:p.Cys209Ter
ENST00000546567.5:c.-79C>A	ENSP00000449472.1:n.-79C>A
ENST00000546609.1:c.539C>A
ENST00000547344.5:n.766C>A
ENST00000547451.1:n.427C>A
NM_000785.3:c.627C>A	NP_000776.1:p.Cys209Ter
NM_000785.4:c.627C>A MANE Select	NP_000776.1:p.Cys209Ter