Canonical Allele Identifier: CA385500896

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58157464A>T (hg19) ; chr12:g.57763681A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763681A>T , CM000674.2:g.57763681A>T	GRCh38
NC_000012.11:g.58157464A>T , CM000674.1:g.58157464A>T	GRCh37
NC_000012.10:g.56443731A>T	NCBI36
NG_007076.1:g.8513T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1424T>A	ENSP00000518840.1:p.Phe475Tyr
ENST00000713545.1:c.*348T>A	ENSP00000518841.1:n.*348T>A
ENST00000228606.9:c.1343T>A MANE Select	ENSP00000228606.4:p.Phe448Tyr
ENST00000228606.8:c.1343T>A	ENSP00000228606.4:p.Phe448Tyr
ENST00000547344.5:n.1482T>A
NM_000785.3:c.1343T>A	NP_000776.1:p.Phe448Tyr
NM_000785.4:c.1343T>A MANE Select	NP_000776.1:p.Phe448Tyr