Canonical Allele Identifier: CA385502817

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58157946C>A (hg19) ; chr12:g.57764163C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764163C>A , CM000674.2:g.57764163C>A	GRCh38
NC_000012.11:g.58157946C>A , CM000674.1:g.58157946C>A	GRCh37
NC_000012.10:g.56444213C>A	NCBI36
NG_007076.1:g.8031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1231G>T	ENSP00000518840.1:p.Val411Leu
ENST00000713545.1:c.*155G>T	ENSP00000518841.1:n.*155G>T
ENST00000228606.9:c.1150G>T MANE Select	ENSP00000228606.4:p.Val384Leu
ENST00000228606.8:c.1150G>T	ENSP00000228606.4:p.Val384Leu
ENST00000546567.5:c.445G>T	ENSP00000449472.1:p.Val149Leu
ENST00000547344.5:n.1289G>T
NM_000785.3:c.1150G>T	NP_000776.1:p.Val384Leu
NM_000785.4:c.1150G>T MANE Select	NP_000776.1:p.Val384Leu