Canonical Allele Identifier: CA385504072

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158317G>T (hg19) ; chr12:g.57764534G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764534G>T , CM000674.2:g.57764534G>T	GRCh38
NC_000012.11:g.58158317G>T , CM000674.1:g.58158317G>T	GRCh37
NC_000012.10:g.56444584G>T	NCBI36
NG_007076.1:g.7660C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1061C>A	ENSP00000518840.1:p.Ser354Tyr
ENST00000713545.1:c.1038C>A	ENSP00000518841.1:p.Leu346=
ENST00000228606.9:c.980C>A MANE Select	ENSP00000228606.4:p.Ser327Tyr
ENST00000228606.8:c.980C>A	ENSP00000228606.4:p.Ser327Tyr
ENST00000546567.5:c.275C>A	ENSP00000449472.1:p.Ser92Tyr
ENST00000547344.5:n.1119C>A
NM_000785.3:c.980C>A	NP_000776.1:p.Ser327Tyr
NM_000785.4:c.980C>A MANE Select	NP_000776.1:p.Ser327Tyr