Canonical Allele Identifier: CA385502671

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57764145-C-A
• MyVariant Identifiers: chr12:g.58157928C>A (hg19) ; chr12:g.57764145C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764145C>A , CM000674.2:g.57764145C>A	GRCh38
NC_000012.11:g.58157928C>A , CM000674.1:g.58157928C>A	GRCh37
NC_000012.10:g.56444195C>A	NCBI36
NG_007076.1:g.8049G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1249G>T	ENSP00000518840.1:p.Val417Phe
ENST00000713545.1:c.*173G>T	ENSP00000518841.1:n.*173G>T
ENST00000228606.9:c.1168G>T MANE Select	ENSP00000228606.4:p.Val390Phe
ENST00000228606.8:c.1168G>T	ENSP00000228606.4:p.Val390Phe
ENST00000546567.5:c.463G>T	ENSP00000449472.1:p.Val155Phe
ENST00000547344.5:n.1307G>T
NM_000785.3:c.1168G>T	NP_000776.1:p.Val390Phe
NM_000785.4:c.1168G>T MANE Select	NP_000776.1:p.Val390Phe