Canonical Allele Identifier: CA480401571

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158162T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764379T>G , CM000674.2:g.57764379T>G	GRCh38
NC_000012.11:g.58158162T>G , CM000674.1:g.58158162T>G	GRCh37
NC_000012.10:g.56444429T>G	NCBI36
NG_007076.1:g.7815A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1216A>C	ENSP00000518840.1:p.Arg406=
ENST00000713545.1:c.*140A>C	ENSP00000518841.1:n.*140A>C
ENST00000228606.9:c.1135A>C MANE Select	ENSP00000228606.4:p.Arg379=
ENST00000228606.8:c.1135A>C	ENSP00000228606.4:p.Arg379=
ENST00000546567.5:c.430A>C	ENSP00000449472.1:p.Arg144=
ENST00000547344.5:n.1274A>C
NM_000785.3:c.1135A>C	NP_000776.1:p.Arg379=
NM_000785.4:c.1135A>C MANE Select	NP_000776.1:p.Arg379=