Canonical Allele Identifier: CA385504056

Gene: CYP27B1

Linked Data

• ClinVar Variation Id: 2831137
• ClinVar RCV Id: RCV003686450
• MyVariant Identifiers: chr12:g.58158313C>T (hg19) ; chr12:g.57764530C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764530C>T , CM000674.2:g.57764530C>T	GRCh38
NC_000012.11:g.58158313C>T , CM000674.1:g.58158313C>T	GRCh37
NC_000012.10:g.56444580C>T	NCBI36
NG_007076.1:g.7664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1065G>A	ENSP00000518840.1:p.Trp355Ter
ENST00000713545.1:c.1042G>A	ENSP00000518841.1:p.Gly348Ser
ENST00000228606.9:c.984G>A MANE Select	ENSP00000228606.4:p.Trp328Ter
ENST00000228606.8:c.984G>A	ENSP00000228606.4:p.Trp328Ter
ENST00000546567.5:c.279G>A	ENSP00000449472.1:p.Trp93Ter
ENST00000547344.5:n.1123G>A
NM_000785.3:c.984G>A	NP_000776.1:p.Trp328Ter
NM_000785.4:c.984G>A MANE Select	NP_000776.1:p.Trp328Ter